A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient

Meta Gene

Volumn 2, Issue , 2014, Pages 880-887

  Patel, Rashmi ^a   Tripathi, Fanish Mani ^b   Singh, Subodh Kumar ^c   Rani, Anjali ^d   Bhattacharya, Visweswar ^d   Ali, Akhtar ^a  

^a BANARAS HINDU UNIVERSITY   (India)

^b Swami Harshankaranand Ji Hospital and Research Center   (India)

^c GS Memorial Plastic Surgery Hospital   (India)

^d BANARAS HINDU UNIVERSITY   (India)

Author keywords

Cephalopolysyndactyly; GCPS; GLI3; India; Limb defects

Indexed keywords

GENOMIC DNA;

ARTICLE; CLINICAL ARTICLE; CONGENITAL MALFORMATION; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; FEMALE; FOOT MALFORMATION; GENE; GENE MUTATION; GLI3 GENE; HAND MALFORMATION; HUMAN; MALE; MULTIPLEX GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PEDIGREE ANALYSIS; PHENOTYPE; POLYDACTYLY; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDACTYLY; X RAY;

EID: 84916231370     PISSN: None     EISSN: 22145400     Source Type: Journal    
DOI: 10.1016/j.mgene.2014.11.002     Document Type: Article

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