Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): A case report

Journal of Pediatric Orthopaedics Part B

Volumn 22, Issue 3, 2013, Pages 219-221

  Cho, Tae Joon ^a   Baek, Goo Hyun ^a   Lee, Hey Ran ^a   Moon, Hyuk Joo ^a   Yoo, Won Joon ^a   Choi, In Ho ^a  

^a Seoul National University Children's Hospital   (South Korea)

Author keywords

five fingered hand; preaxial polydactyly; tibial hemimelia; ZRS

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ARTICLE; CASE REPORT; CHILD; GENE MUTATION; HEMIMELIA; HUMAN; INFANT; LIMB MALFORMATION; MALE; MESENCHYME; NEWBORN; PHENOTYPE; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIOGRAPHY; REGULATORY SEQUENCE; RISK FACTOR; TIBIAL HEMIMELIA PREAXIAL POLYDACTYLY FIVE FINGERED HAND SYNDROME; ZONE OF POLARIZING ACTIVITY;

ABNORMALITIES, MULTIPLE; ECTROMELIA; FINGERS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HEDGEHOG PROTEINS; HUMANS; INFANT, NEWBORN; MALE; POINT MUTATION; POLYDACTYLY; RARE DISEASES; SYNDROME; TIBIA;

EID: 84875804688     PISSN: 1060152X     EISSN: 14735865     Source Type: Journal    
DOI: 10.1097/BPB.0b013e32835106b2     Document Type: Article

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