A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2.

Takagi, Masaki; Yagi, Hiroko; Nakamura, Yoshie; Shinohara, Hiroyuki; Takeda, Ryojun; Shimada, Aya; Nishimura, Gen; Hasegawa, Yukihiro.

Takagi M; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan ; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Yagi H; Department of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Nakamura Y; Department of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Shinohara H; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Takeda R; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Shimada A; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Nishimura G; Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Hasegawa Y; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan ; Department of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

Clin Pediatr Endocrinol ; 24(3): 139-41, 2015 Jul.

Article en En | MEDLINE | ID: mdl-26594095

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2015 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2015 Tipo del documento: Article