A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.

Kondo, Daiki; Noguchi, Atsuko; Takahashi, Ikuko; Kubota, Hiroki; Yano, Tamami; Sato, Yoko; Toyono, Miyuki; Sawaishi, Yukio; Takahashi, Tsutomu

Kondo, Daiki; Noguchi, Atsuko; Takahashi, Ikuko; Kubota, Hiroki; Yano, Tamami; Sato, Yoko; Toyono, Miyuki; Sawaishi, Yukio; Takahashi, Tsutomu.

Afiliación

Kondo D; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Akita, Japan.
Noguchi A; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Akita, Japan.
Takahashi I; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Akita, Japan.
Kubota H; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Akita, Japan.
Yano T; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Akita, Japan.
Sato Y; Hiraka General Hospital, Yokote, Akita, Japan.
Toyono M; Division of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Akita, Japan.
Sawaishi Y; Division of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Akita, Japan.
Takahashi T; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Akita, Japan. Electronic address: tomy@doc.med.akita-u.ac.jp.

Brain Dev ; 40(9): 760-767, 2018 Oct.

Article en En | MEDLINE | ID: mdl-29803542

Asunto(s)

Artrogriposis/genética; Proteínas Portadoras/genética; Discapacidad Intelectual/genética; Mutación Missense; Artrogriposis/patología; Artrogriposis/fisiopatología; Proteínas Portadoras/metabolismo; Línea Celular; Niño; Humanos; Discapacidad Intelectual/patología; Discapacidad Intelectual/fisiopatología; Péptidos y Proteínas de Señalización Intracelular; Masculino; Proteínas Nucleares; Fenotipo; Hermanos

Palabras clave

Arthrogryposis multiplex congenita; Hypoglycemia; Miles-Carpenter syndrome; Wieacker-Wolff syndrome; ZC4H2 protein

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Artrogriposis / Proteínas Portadoras / Mutación Missense / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Brain Dev Año: 2018 Tipo del documento: Article

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