Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.

Sohn, Young Bae; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won; Chae, Jong-Hee; Lee, Kyung-A

Sohn, Young Bae; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won; Chae, Jong-Hee; Lee, Kyung-A.

Afiliação

Sohn YB; Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, South Korea.
Ko JM; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
Shin CH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
Yang SW; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
Lee KA; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, South Korea.

J Hum Genet ; 61(3): 235-9, 2016 Mar.

Article em En | MEDLINE | ID: mdl-26538304

Assuntos

Síndrome CHARGE/genética; Vermis Cerebelar/patologia; Adolescente; Síndrome CHARGE/patologia; Criança; Pré-Escolar; Feminino; Predisposição Genética para Doença; Humanos; Lactente; Recém-Nascido; Masculino; República da Coreia; Adulto Jovem

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome CHARGE / Vermis Cerebelar Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Coréia do Sul

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