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Identification
HMDB Protein ID HMDBP02644
Secondary Accession Numbers
  • 8144
Name Zinc finger protein GLI3
Synonyms Not Available
Gene Name GLI3
Protein Type Unknown
Biological Properties
General Function Involved in zinc ion binding
Specific Function Plays a role in limb and brain development. Implicated in the transduction of SHH signal
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
intracellular
Function
ion binding
cation binding
metal ion binding
binding
transition metal ion binding
zinc ion binding
nucleic acid binding
Cellular Location
  1. Nucleus
Gene Properties
Chromosome Location Chromosome:7
Locus 7p13
SNPs GLI3
Gene Sequence
>4743 bp
ATGGAGGCCCAGTCCCACAGCTCCACGACCACTGAAAAGAAAAAAGTTGAGAATTCCATA
GTGAAGTGCTCCACTCGAACAGATGTGAGCGAGAAAGCCGTTGCCTCCAGCACCACTTCT
AATGAGGATGAAAGTCCTGGACAGACTTATCACAGAGAGAGAAGAAACGCAATCACTATG
CAGCCACAGAATGTCCAGGGGCTCAGCAAAGTCAGTGAGGAACCTTCAACATCGAGTGAC
GAGAGGGCCTCATTGATCAAGAAAGAGATCCATGGGTCCCTGCCACACGTGGCGGAGCCC
TCTGTGCCGTACCGCGGGACGGTGTTTGCCATGGACCCCAGGAATGGTTACATGGAGCCC
CACTACCACCCTCCTCATCTTTTCCCTGCCTTCCATCCTCCTGTACCAATTGATGCCAGA
CATCATGAGGGCCGTTACCATTACGATCCATCTCCGATTCCTCCATTGCATATGACTTCC
GCCTTATCTAGTAGCCCTACGTATCCGGACCTGCCCTTCATTAGGATCTCCCCACACCGG
AACCCCACTGCTGCTTCCGAGTCTCCCTTCAGCCCTCCACATCCCTACATTAATCCCTAC
ATGGACTATATCCGCTCCTTGCACAGCAGCCCATCGCTCTCCATGATCTCAGCAACCCGT
GGGCTGAGCCCTACAGATGCGCCCCATGCAGGAGTCAGCCCAGCAGAATACTATCATCAG
ATGGCCCTGCTAACTGGCCAGCGCAGCCCCTATGCAGACATTATTCCCTCAGCTGCCACC
GCCGGCACGGGGGCCATCCACATGGAATATCTTCATGCTATGGATAGCACCAGATTCTCC
AGCCCCAGGCTGTCAGCCAGGCCGAGCCGAAAACGTACACTGTCCATATCACCACTCTCC
GATCATAGCTTTGACCTTCAGACCATGATAAGGACGTCTCCCAACTCCTTGGTCACGATT
CTCAATAATTCCCGTAGCAGCTCTTCAGCAAGTGGCTCCTATGGTCACTTATCTGCAAGT
GCAATCAGCCCTGCCTTGAGCTTCACCTACTCTTCCGCGCCCGTCTCTCTCCACATGCAT
CAGCAGATCCTAAGCCGACAACAGAGCTTAGGTTCAGCCTTTGGACACAGCCCTCCACTC
ATCCACCCTGCCCCAACTTTTCCAACACAGAGGCCTATTCCAGGGATCCCTACGGTTCTG
AACCCCGTCCAGGTCAGCTCCGGCCCTTCTGAGTCCTCACAGAACAAGCCCACGAGTGAG
TCTGCAGTGAGCAGCACTGGTGACCCGATGCACAACAAGAGGTCCAAGATCAAACCCGAT
GAAGACCTCCCCAGCCCAGGGGCTCGGGGGCAGCAGGAACAGCCCGAAGGAACAACCCTT
GTCAAGGAGGAAGGGGACAAAGATGAAAGCAAACAGGAGCCTGAAGTCATCTATGAGACA
AACTGCCACTGGGAAGGCTGCGCGAGGGAGTTCGACACCCAAGAGCAGCTTGTGCACCAT
ATAAATAACGACCATATTCATGGAGAGAAGAAGGAGTTCGTGTGCAGGTGGCTGGACTGC
TCAAGAGAGCAGAAACCCTTCAAAGCCCAGTATATGTTGGTAGTGCATATGAGAAGACAC
ACGGGCGAGAAGCCTCACAAATGCACTTTTGAAGGTTGCACAAAGGCCTACTCGAGACTA
GAAAACTTGAAAACACACTTGAGATCTCACACTGGAGAGAAACCATACGTCTGTGAGCAC
GAAGGTTGCAACAAGGCTTTCTCAAATGCCTCTGATCGCGCCAAACACCAAAACAGAACG
CATTCCAATGAGAAACCATATGTGTGCAAAATCCCAGGCTGCACTAAGCGTTACACAGAC
CCAAGCTCCCTCCGGAAACATGTGAAGACAGTGCATGGCCCAGAGGCTCATGTCACCAAG
AAGCAGCGAGGGGACATCCATCCTCGGCCGCCACCCCCGAGAGATTCCGGCAGCCATTCA
CAGTCCAGGTCGCCTGGCCGACCGACTCAGGGAGCCCTTGGTGAGCAGCAGGACCTCAGC
AACACTACCTCAAAGCGGGAAGAATGCCTCCAGGTGAAAACCGTCAAGGCAGAGAAGCCA
ATGACATCTCAGCCAAGCCCTGGTGGTCAGTCTTCATGCAGCAGCCAACAGTCCCCCATC
AGCAACTATTCCAACAGTGGGCTCGAGCTTCCTCTGACCGATGGAGGTAGTATAGGAGAC
CTCAGTGCCATCGATGAAACCCCAATCATGGACTCAACCATTTCCACTGCAACCACAGCC
CTTGCTTTGCAAGCCAGGAGAAACCCGGCAGGGACCAAATGGATGGAGCACGTAAAACTA
GAAAGGCTAAAACAAGTGAATGGAATGTTTCCGCGACTGAACCCCATTCTACCCCCTAAA
GCCCCTGCGGTCTCTCCTCTCATAGGAAATGGCACACAGTCCAACAACACCTGCAGCTTG
GGTGGGCCCATGACGCTTCTCCCGGGCAGAAGCGACCTCTCTGGGGTGGACGTCACTATG
CTGAACATGCTCAACAGAAGGGACAGCAGCGCCAGCACCATCAGCTCGGCCTACCTGAGC
AGCCGCCGCTCCTCAGGGATCTCGCCCTGCTTCTCCAGCCGCCGCTCCAGCGAGGCGTCA
CAGGCCGAGGGCCGGCCGCAGAACGTGAGCGTGGCCGACTCCTACGACCCCATCTCCACC
GACGCCTCGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGC
CTCACGCCCGCCCAGCAGTACCGCCTCAAGGCCAAGTACGCGGCTGCCACAGGAGGGCCG
CCGCCGACGCCCCTGCCCAACATGGAGAGGATGAGCCTGAAGACGCGCCTGGCGCTGCTC
GGGGATGCCCTCGAGCCTGGCGTGGCCCTGCCTCCAGTTCATGCCCCGAGGAGGTGCAGC
GACGGGGGAGCCCACGGCTACGGGCGGCGCCACCTGCAGCCGCACGATGCGCCGGGCCAC
GGCGTGAGGAGGGCCAGCGACCCGGTGCGGACAGGCTCCGAGGGCCTGGCCCTGCCTCGT
GTGCCGCGCTTCAGCAGCCTCAGCAGCTGCAACCCCCCGGCGATGGCCACGTCCGCGGAG
AAGCGCAGTCTCGTGCTTCAGAATTACACGCGGCCCGAGGGCGGCCAGTCCCGAAACTTC
CACTCGTCCCCCTGTCCTCCCAGCATCACCGAGAACGTCACCCTGGAGTCCCTGACCATG
GACGCTGATGCCAACCTGAACGATGAGGATTTCCTGCCGGACGACGTGGTGCAGTATTTA
AATTCCCAGAACCAAGCAGGGTACGAGCAGCACTTCCCCAGCGCCCTCCCGGACGACAGC
AAAGTGCCCCACGGGCCCGGTGACTTTGACGCGCCCGGGCTGCCAGACAGCCACGCTGGC
CAGCAGTTCCATGCCCTCGAGCAGCCCTGCCCCGAGGGCAGCAAAACCGACCTGCCCATT
CAGTGGAACGAAGTCAGCTCCGGAAGCGCCGACCTGTCCTCCTCCAAGCTCAAGTGTGGG
CCGCGGCCCGCTGTGCCGCAGACTCGCGCCTTTGGGTTCTGCAACGGCATGGTCGTCCAC
CCGCAGAACCCCTTGAGGAGCGGGCCTGCTGGGGGCTATCAGACCCTCGGGGAGAACAGC
AACCCCTACGGTGGCCCAGAGCACTTGATGCTCCACAACAGCCCCGGAAGTGGCACCAGT
GGAAACGCCTTCCATGAACAGCCCTGTAAGGCCCCGCAGTATGGGAACTGTCTCAACAGG
CAGCCAGTGGCCCCTGGTGCACTCGACGGTGCCTGTGGTGCCGGGATTCAAGCCTCAAAG
CTGAAGAGCACCCCCATGCAAGGGAGCGGGGGCCAGCTGAATTTCGGCCTGCCGGTAGCG
CCAAATGAGTCAGCTGGCAGCATGGTGAATGGCATGCAGAACCAGGACCCAGTGGGACAG
GGGTACCTGGCTCACCAGCTCCTCGGCGACAGCATGCAGCACCCGGGGGCAGGCCGCCCC
GGTCAGCAGATGCTTGGGCAGATTAGTGCTACCTCACACATCAACATCTACCAAGGGCCA
GAGAGCTGCCTGCCAGGGGCTCACGGCATGGGCAGCCAGCCGTCAAGCTTGGCAGTTGTC
AGGGGCTACCAGCCATGTGCCAGCTTTGGGGGCAGCAGGCGCCAGGCTATGCCGAGGGAC
AGCCTTGCTCTGCAGTCAGGACAGCTCAGTGACACAAGTCAGACCTGCAGGGTGAATGGT
ATCAAGATGGAGATGAAAGGGCAGCCCCATCCGCTGTGCTCTAATCTGCAGAATTACTCT
GGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTC
TCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTT
TCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAA
GGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCG
GGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACG
CCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGG
GACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTCCTTGCAGTTATGCAA
TAG
Protein Properties
Number of Residues 1580
Molecular Weight 169861.6
Theoretical pI 7.41
Pfam Domain Function Not Available
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Zinc finger protein GLI3
MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITM
QPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEP
HYHPPHLFPAFHPPVPIDARHHEGRYHYDPSPIPPLHMTSALSSSPTYPDLPFIRISPHR
NPTAASESPFSPPHPYINPYMDYIRSLHSSPSLSMISATRGLSPTDAPHAGVSPAEYYHQ
MALLTGQRSPYADIIPSAATAGTGAIHMEYLHAMDSTRFSSPRLSARPSRKRTLSISPLS
DHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSASAISPALSFTYSSAPVSLHMH
QQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQNKPTSE
SAVSSTGDPMHNKRSKIKPDEDLPSPGARGQQEQPEGTTLVKEEGDKDESKQEPEVIYET
NCHWEGCAREFDTQEQLVHHINNDHIHGEKKEFVCRWLDCSREQKPFKAQYMLVVHMRRH
TGEKPHKCTFEGCTKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRT
HSNEKPYVCKIPGCTKRYTDPSSLRKHVKTVHGPEAHVTKKQRGDIHPRPPPPRDSGSHS
QSRSPGRPTQGALGEQQDLSNTTSKREECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPI
SNYSNSGLELPLTDGGSIGDLSAIDETPIMDSTISTATTALALQARRNPAGTKWMEHVKL
ERLKQVNGMFPRLNPILPPKAPAVSPLIGNGTQSNNTCSLGGPMTLLPGRSDLSGVDVTM
LNMLNRRDSSASTISSAYLSSRRSSGISPCFSSRRSSEASQAEGRPQNVSVADSYDPIST
DASRRSSEASQSDGLPSLLSLTPAQQYRLKAKYAAATGGPPPTPLPNMERMSLKTRLALL
GDALEPGVALPPVHAPRRCSDGGAHGYGRRHLQPHDAPGHGVRRASDPVRTGSEGLALPR
VPRFSSLSSCNPPAMATSAEKRSLVLQNYTRPEGGQSRNFHSSPCPPSITENVTLESLTM
DADANLNDEDFLPDDVVQYLNSQNQAGYEQHFPSALPDDSKVPHGPGDFDAPGLPDSHAG
QQFHALEQPCPEGSKTDLPIQWNEVSSGSADLSSSKLKCGPRPAVPQTRAFGFCNGMVVH
PQNPLRSGPAGGYQTLGENSNPYGGPEHLMLHNSPGSGTSGNAFHEQPCKAPQYGNCLNR
QPVAPGALDGACGAGIQASKLKSTPMQGSGGQLNFGLPVAPNESAGSMVNGMQNQDPVGQ
GYLAHQLLGDSMQHPGAGRPGQQMLGQISATSHINIYQGPESCLPGAHGMGSQPSSLAVV
RGYQPCASFGGSRRQAMPRDSLALQSGQLSDTSQTCRVNGIKMEMKGQPHPLCSNLQNYS
GQFYDQTVGFSQQDTKAGSFSISDASCLLQGTSAKNSELLSPGANQVTSTVDSLDSHDLE
GVQIDFDAIIDDGDHSSLMSGALSPSIIQNLSHSSSRLTTPRASLPFPALSMSTTNMAIG
DMSSLLTSLAEESKFLAVMQ
GenBank ID Protein 119393899
UniProtKB/Swiss-Prot ID P10071
UniProtKB/Swiss-Prot Entry Name GLI3_HUMAN
PDB IDs
GenBank Gene ID NM_000168.5
GeneCard ID GLI3
GenAtlas ID GLI3
HGNC ID HGNC:4319
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [PubMed:17081983 ]
  3. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. doi: 10.1021/ac9004309. [PubMed:19413330 ]
  4. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed:16959974 ]
  5. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC: Human chromosome 7: DNA sequence and biology. Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10. [PubMed:12690205 ]
  6. Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK: The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. [PubMed:12853948 ]
  7. Ruppert JM, Vogelstein B, Arheden K, Kinzler KW: GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity. Mol Cell Biol. 1990 Oct;10(10):5408-15. [PubMed:2118997 ]
  8. Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, Konig R, Kunze J, Meinecke P, Muller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH: Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet. 1999 Sep;8(9):1769-77. [PubMed:10441342 ]
  9. Ruppert JM, Kinzler KW, Wong AJ, Bigner SH, Kao FT, Law ML, Seuanez HN, O'Brien SJ, Vogelstein B: The GLI-Kruppel family of human genes. Mol Cell Biol. 1988 Aug;8(8):3104-13. [PubMed:2850480 ]
  10. Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, Konig R, Grzeschik KH: Point mutations in human GLI3 cause Greig syndrome. Hum Mol Genet. 1997 Oct;6(11):1979-84. [PubMed:9302279 ]
  11. Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE: The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet. 1999 Sep;65(3):645-55. [PubMed:10441570 ]
  12. Elson E, Perveen R, Donnai D, Wall S, Black GC: De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet. 2002 Nov;39(11):804-6. [PubMed:12414818 ]
  13. Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M: Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet A. 2003 Jul 1;120A(1):49-58. [PubMed:12794692 ]