A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Volodarsky, Michael ^a   Langer, Yshaia ^a,b   Birk, Ohad S ^a,c  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

C2H2; GCPS; GLI3; Mutation; Polydactyly; Syndactyly; Zinc finger

Indexed keywords

TRANSCRIPTION FACTOR GLI3; ARGININE; GLI3 PROTEIN, HUMAN; HISTIDINE; KRUPPEL LIKE FACTOR; NERVE PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CRANIOFACIAL MALFORMATION; EXON; HAPLOTYPE; HEAD CIRCUMFERENCE; HUMAN; MISSENSE MUTATION; MOROCCAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYDACTYLY; SYNDACTYLY; ZINC FINGER MOTIF; CASE REPORT; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENETICS; GENOTYPE; JEW; MALE; MOROCCO; PATHOLOGY; PEDIGREE; PROTEIN TERTIARY STRUCTURE;

ARGININE; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOTYPE; HISTIDINE; HUMANS; JEWS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MOROCCO; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; POLYDACTYLY; PROTEIN STRUCTURE, TERTIARY; SYNDACTYLY;

EID: 84908067789     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-014-0110-9     Document Type: Article

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