Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome.

Kaneko, Hideo; Kawase, Chizuru; Seki, Junko; Ikawa, Yasuhiro; Yachie, Akihiro; Funato, Michinori

Kaneko, Hideo; Kawase, Chizuru; Seki, Junko; Ikawa, Yasuhiro; Yachie, Akihiro; Funato, Michinori.

Afiliación

Kaneko H; Department of Pediatric Medical Care, Gifu Prefectural General Medical Center, Gifu, Japan. kaneko-hideo@gifu-hp.jp.
Kawase C; Department of Clinical Research, National Hospital Organization, Nagara Medical Center, Gifu, Japan. kaneko-hideo@gifu-hp.jp.
Seki J; Department of Clinical Research, National Hospital Organization, Nagara Medical Center, Gifu, Japan.
Ikawa Y; Department of Clinical Research, National Hospital Organization, Nagara Medical Center, Gifu, Japan.
Yachie A; Department of Pediatrics, School of Medicine Institute of Medical Pharmaceutical and Health Science, Kanazawa University, Kanazawa, Japan.
Funato M; Division of Medical Safety, Kanazawa University Hospital, Kanazawa, Japan.

J Hum Genet ; 68(5): 321-327, 2023 May.

Article en En | MEDLINE | ID: mdl-36646944

Asunto(s)

Síndrome de Bloom; Discapacidad Intelectual; Humanos; Síndrome de Bloom/genética; Mutación; Fenotipo; Neuronas

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Bloom / Discapacidad Intelectual Tipo de estudio: Guideline / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Japón

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