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Further evidence for distinct traits associated with RBM10 missense variants.
Poulton, Cathryn; Baynam, Gareth; Pugh, Kye; Mason, Michael; Kiraly-Borri, Catherine; Gration, Dylan; Dreyer, Lauren; Viti, Leon; Agostino, Mark; Heng, Julian Ik-Tsen.
Afiliación
  • Poulton C; Western Australian Register of Developmental Anomalies, Perth, Australia.
  • Baynam G; Genetic Services of WA, Government of Western Australia, Perth, Australia.
  • Pugh K; Western Australian Register of Developmental Anomalies, Perth, Australia.
  • Mason M; Genetic Services of WA, Government of Western Australia, Perth, Australia.
  • Kiraly-Borri C; Faculty of Health and Medicine, University of Western Australia, Perth, Australia.
  • Gration D; Telethon Kids Institute, Perth, Australia.
  • Dreyer L; Faculty of Medicine, University of Notre Dame, Fremantle, Australia.
  • Viti L; Faculty of Science and Engineering, Curtin University, Perth, Australia.
  • Agostino M; Curtin Medical School, Curtin University, Bentley, Australia.
  • Heng JI; Perth Children's Hospital, Perth, Western Australia.
Clin Genet ; 102(2): 161-163, 2022 08.
Article en En | MEDLINE | ID: mdl-35645043
ABSTRACT
A case of a missense RBM10 variant in an adult with mild to moderate intellectual disability.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Adult / Humans Idioma: En Revista: Clin Genet Año: 2022 Tipo del documento: Article País de afiliación: Australia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Adult / Humans Idioma: En Revista: Clin Genet Año: 2022 Tipo del documento: Article País de afiliación: Australia