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Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
Zambrano, Regina M; Marble, Michael; Chalew, Stuart A; Lilje, Christian; Vargas, Alfonso; Lacassie, Yves.
Afiliação
  • Zambrano RM; Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
  • Marble M; Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
  • Chalew SA; Division of Endocrinology, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
  • Lilje C; Division of Cardiology, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
  • Vargas A; Division of Endocrinology, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
  • Lacassie Y; Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
Am J Med Genet A ; 173(2): 565-567, 2017 02.
Article em En | MEDLINE | ID: mdl-27868344
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação Puntual / Proteína Fosfatase 1 / Síndrome dos Cabelos Anágenos Frouxos / Síndrome de Noonan Tipo de estudo: Diagnostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação Puntual / Proteína Fosfatase 1 / Síndrome dos Cabelos Anágenos Frouxos / Síndrome de Noonan Tipo de estudo: Diagnostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article