Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery

Journal of Medical Genetics

Volumn 46, Issue 11, 2009, Pages 730-735

  Furniss, D ^a,b   Kan, S H ^a   Taylor, I B ^a   Johnson, D ^b   Critchley, P S ^b   Giele, H P ^b   Wilkie, A O M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRACHYDACTYLY; CAMPTODACTYLY; CHROMOSOME ABERRATION; CHROMOSOME MUTATION; CLINODACTYLY; CONGENITAL MALFORMATION; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EN1 GENE; FAMILY HISTORY; GENE; GENETIC SCREENING; GLI3 GENE; HAND2 GENE; HOXD13 GENE; HUMAN; LIMB MALFORMATION; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; ORTHOPEDIC SURGERY; POINT MUTATION; POLYDACTYLY; PRIORITY JOURNAL; ROR2 GENE; SALL1 GENE; SALL4 GENE; SPRY4 GENE; SYNDACTYLY; TBX5 GENE; TRIGGER FINGER; TWIST1 GENE; WNT7A GENE; ZRS OF SHH GENE;

CHILD; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; HUMANS; KARYOTYPING; LIMB DEFORMITIES, CONGENITAL; RECONSTRUCTIVE SURGICAL PROCEDURES;

EID: 72449167561     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.066027     Document Type: Article

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