A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving <i>PAX8</i>.

Iwahashi-Odano, Megumi; Kitamura, Miyuki; Narumi, Satoshi

A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8.

Iwahashi-Odano, Megumi; Kitamura, Miyuki; Narumi, Satoshi.

Afiliação

Iwahashi-Odano M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Kitamura M; Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
Narumi S; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.

Clin Pediatr Endocrinol ; 32(1): 65-71, 2023.

Article em En | MEDLINE | ID: mdl-36761496

Palavras-chave

PAX8; chromosome deletion; congenital hypothyroidism; genetics

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Pediatr Endocrinol Ano de publicação: 2023 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Pediatr Endocrinol Ano de publicação: 2023 Tipo de documento: Article