Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation.

Matsumoto, Hideki; Hori, Tomohiro; Mori, Mai; Sasai, Hideo; Tokuyama, Tsuyoshi; Yamada, Takahiro; Ohnishi, Hidenori

Matsumoto, Hideki; Hori, Tomohiro; Mori, Mai; Sasai, Hideo; Tokuyama, Tsuyoshi; Yamada, Takahiro; Ohnishi, Hidenori.

Afiliación

Matsumoto H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Hori T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Mori M; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.
Sasai H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Tokuyama T; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.
Yamada T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Ohnishi H; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.

Pediatr Int ; 66(1): e15766, 2024.

Article en En | MEDLINE | ID: mdl-38973228

Asunto(s)

Raquitismo; Humanos; Raquitismo/diagnóstico; Raquitismo/genética; Raquitismo/complicaciones; Masculino; Femenino; Osteocondrodisplasias/genética; Osteocondrodisplasias/diagnóstico; Osteocondrodisplasias/complicaciones; Lactante

Palabras clave

MMP13; metaphyseal anadysplasia; metaphyseal dysplasia; rickets; skeletal dysplasia

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Raquitismo Límite: Female / Humans / Infant / Male Idioma: En Revista: Pediatr Int Asunto de la revista: PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Australia

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