A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Gripp, Karen W; Aldinger, Kimberly A; Bennett, James T; Baker, Laura; Tusi, Jessica; Powell-Hamilton, Nina; Stabley, Deborah; Sol-Church, Katia; Timms, Andrew E; Dobyns, William B

Gripp, Karen W; Aldinger, Kimberly A; Bennett, James T; Baker, Laura; Tusi, Jessica; Powell-Hamilton, Nina; Stabley, Deborah; Sol-Church, Katia; Timms, Andrew E; Dobyns, William B.

Afiliación

Gripp KW; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.
Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
Bennett JT; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
Baker L; Department of Pediatrics, University of Washington, Seattle, Washington.
Tusi J; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.
Powell-Hamilton N; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.
Stabley D; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.
Sol-Church K; Center for Applied Clinical Genomics, A. I. duPont Hospital for Children, Wilmington, Delaware.
Timms AE; Center for Applied Clinical Genomics, A. I. duPont Hospital for Children, Wilmington, Delaware.
Dobyns WB; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington.

Am J Med Genet A ; 170(9): 2237-47, 2016 09.

Article en En | MEDLINE | ID: mdl-27264673

Asunto(s)

Síndrome del Cabello Anágeno Suelto/diagnóstico; Síndrome del Cabello Anágeno Suelto/genética; Mutación Missense; Síndrome de Noonan/diagnóstico; Síndrome de Noonan/genética; Proteína Fosfatasa 1/genética; Encéfalo/patología; Niño; Preescolar; Síndrome de Dandy-Walker/diagnóstico; Síndrome de Dandy-Walker/genética; Diagnóstico por Imagen; Exoma; Facies; Femenino; Estudios de Asociación Genética; Pruebas Genéticas; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Síndrome del Cabello Anágeno Suelto/metabolismo; Masculino; Síndrome de Noonan/metabolismo; Fenotipo; Adulto Joven; Proteínas ras/metabolismo

Palabras clave

Dandy-Walker malformation; Noonan syndrome; PPP1CB; developmental delay; loose anagen hair; rasopathy; short stature

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Mutación Missense / Proteína Fosfatasa 1 / Síndrome del Cabello Anágeno Suelto / Síndrome de Noonan Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article

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