Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: Two cases and expansion of the phenotype to radial agenesis

European Journal of Medical Genetics

Volumn 56, Issue 2, 2013, Pages 88-92

  Petit, Florence ^a,b   Andrieux, Joris ^a   Demeer, Bénédicte ^c   Collet, Louis Michel ^c   Copin, Henri ^c,d   Boudry Labis, Elise ^a   Escande, Fabienne ^a   Manouvrier Hanu, Sylvie ^a,b   Mathieu Dramard, Michèle ^c  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b UNIV LILLE   (France)

^c AMIENS UNIVERSITY HOSPITAL   (France)

^d UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

Author keywords

17p13.3 duplication; BHLHA9; Ectrodactyly; SHFLD; SHFM

Indexed keywords

BASIC HELIX LOOP HELIX FAMILY MEMBRANE A9; HELIX LOOP HELIX PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BONE MALFORMATION; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; ECHOGRAPHY; ECTRODACTYLY; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; HUMAN; HYPOPLASIA; INFANT; LONG BONE MALFORMATION; MALE; PHENOTYPE; PRESCHOOL CHILD; RADIUS APLASIA; SPLIT HAND FOOT MALFORMATION WITH LONG BONE DEFICIENCY;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DUPLICATION; HUMANS; INFANT; LIMB DEFORMITIES, CONGENITAL; MALE; PHENOTYPE; RECOMBINATION, GENETIC; TIBIA;

EID: 84873142867     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.11.002     Document Type: Article

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