A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1.

Higuchi, Shinji; Takagi, Masaki; Shimomura, Satoshi; Nishimura, Gen; Hasegawa, Yukihiro.

Afiliação

Higuchi S; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Takagi M; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Shimomura S; Department of Orthopedics, 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 Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Clin Pediatr Endocrinol ; 25(3): 107-10, 2016 Jul.

Article em En | MEDLINE | ID: mdl-27507912