A familial case with brachydactyly type C with a GDF5 mutation
Journal of Genetic Medicine
;
: 27-30, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-7131
ABSTRACT
Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/or proximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth differentiation factor-5 (GDF5) gene cause isolated brachydactyly C. Herein, we report a familial case with isolated brachydactyly type C characterized by brachymesophalangy of both second and third digits, with a GDF5 missense mutation, and discuss the phenotypic variability of the condition. Identifying more cases with genetic confirmation will help elucidate the clinical and genetic characteristics of this condition in the Korean population.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Mutação de Sentido Incorreto
/
Extremidades
/
Braquidactilia
Tipo de estudo:
Estudo prognóstico
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2014
Tipo de documento:
Artigo
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