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Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
Jepsen, Wayne M; Ramsey, Keri; Szelinger, Szabolcs; Llaci, Lorida; Balak, Chris; Belnap, Newell; Bilagody, Cherae; De Both, Matthew; Gupta, Raj; Naymik, Marcus; Pandey, Richa; Piras, Ignazio S; Sanchez-Castillo, Meredith; Rangasamy, Sampathkumar; Narayanan, Vinodh; Huentelman, Matthew J.
Afiliación
  • Jepsen WM; Translational Genomics Research Institute (TGen), Phoenix, Arizona.
  • Ramsey K; TGen's Center for Rare Childhood Disorders (C4RCD), Phoenix, Arizona.
  • Szelinger S; School of Life Sciences, Arizona State University, Tempe, Arizona.
  • Llaci L; Translational Genomics Research Institute (TGen), Phoenix, Arizona.
  • Balak C; TGen's Center for Rare Childhood Disorders (C4RCD), Phoenix, Arizona.
  • Belnap N; Translational Genomics Research Institute (TGen), Phoenix, Arizona.
  • Bilagody C; TGen's Center for Rare Childhood Disorders (C4RCD), Phoenix, Arizona.
  • De Both M; Translational Genomics Research Institute (TGen), Phoenix, Arizona.
  • Gupta R; TGen's Center for Rare Childhood Disorders (C4RCD), Phoenix, Arizona.
  • Naymik M; Translational Genomics Research Institute (TGen), Phoenix, Arizona.
  • Pandey R; TGen's Center for Rare Childhood Disorders (C4RCD), Phoenix, Arizona.
  • Piras IS; TGen's Center for Rare Childhood Disorders (C4RCD), Phoenix, Arizona.
  • Sanchez-Castillo M; Translational Genomics Research Institute (TGen), Phoenix, Arizona.
  • Rangasamy S; TGen's Center for Rare Childhood Disorders (C4RCD), Phoenix, Arizona.
  • Narayanan V; Translational Genomics Research Institute (TGen), Phoenix, Arizona.
  • Huentelman MJ; TGen's Center for Rare Childhood Disorders (C4RCD), Phoenix, Arizona.
Clin Genet ; 96(2): 183-185, 2019 08.
Article en En | MEDLINE | ID: mdl-31236915

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual Ligada al Cromosoma X / Discapacidad Intelectual Límite: Humans / Male Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article Pais de publicación: Dinamarca

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual Ligada al Cromosoma X / Discapacidad Intelectual Límite: Humans / Male Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article Pais de publicación: Dinamarca