Phenotypic comparison of patients affected with DeSanto‐Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC

INTRODUCTION: DeSanto‐Shinawi syndrome is a rare neurodevelopmental disorder caused by loss‐of‐function variants of WAC, located on chromosome 10p12.1. This syndrome is characterized by dysmorphic facial features, intellectual disability, and behavioral problems. CASE REPORT: In this case report, we...

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Detalles Bibliográficos
Autores principales: Toledo‐Gotor, Cristina, García‐Muro, Cristina, García‐Oguiza, Alberto, Poch‐Olivé, Mª. Luisa, Ruiz‐del Prado, Mª. Yolanda, Domínguez‐Garrido, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034681/
https://www.ncbi.nlm.nih.gov/pubmed/35266333
http://dx.doi.org/10.1002/mgg3.1910

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034681/
https://www.ncbi.nlm.nih.gov/pubmed/35266333
http://dx.doi.org/10.1002/mgg3.1910

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