Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of <i>ATRX</i>.

Takagi, Masaki; Yagi, Hiroko; Fukuzawa, Ryuji; Narumi, Satoshi; Hasegawa, Tomonobu

Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX.

Takagi, Masaki; Yagi, Hiroko; Fukuzawa, Ryuji; Narumi, Satoshi; Hasegawa, Tomonobu.

Afiliação

Takagi M; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Yagi H; Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Fukuzawa R; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Narumi S; Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Hasegawa T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Hum Genome Var ; 4: 17012, 2017.

Article em En | MEDLINE | ID: mdl-28446958

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Genome Var Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão

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