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Mutación de novo en KAT6B, síndrome Say-Barber-Biesecker-Young-Simpson y trastorno específico del lenguaje / De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment
Fernández-Mayoralas, DM; Calleja-Pérez, B; Álvarez, S; Fernández-Jaén, A.
Affiliation
  • Fernández-Mayoralas, DM; Hospital Universitario Quirónsalud. Departamento de Neuropediatría. Madrid. España
  • Calleja-Pérez, B; Centro de Salud Doctor Cirajas. Atención Primaria. Madrid. España
  • Álvarez, S; NIMGenetics. Genómica y Medicina. Madrid. España
  • Fernández-Jaén, A; Universidad Europea de Madrid. Facultad de Medicina. Villaviciosa de Odón. España
Neurología (Barc., Ed. impr.) ; 35(8): 601-603, oct. 2020. ilus
Article in Es | IBECS | ID: ibc-202183
Responsible library: ES1.1
Localization: BNCS
RESUMEN
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Subject(s)
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Full text: 1 Collection: 06-national / ES Database: IBECS Main subject: Retrognathia / Abnormalities, Multiple / Blepharophimosis / Fingers / Language Development Disorders / Mutation Limits: Child / Humans / Male Language: Es Journal: Neurología (Barc., Ed. impr.) Year: 2020 Document type: Article
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Full text: 1 Collection: 06-national / ES Database: IBECS Main subject: Retrognathia / Abnormalities, Multiple / Blepharophimosis / Fingers / Language Development Disorders / Mutation Limits: Child / Humans / Male Language: Es Journal: Neurología (Barc., Ed. impr.) Year: 2020 Document type: Article