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IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain

Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, with intellectual disability as a uniform feature. We report five cases, each with a novel missense variant in the pleckstrin homology (PH) domain of the IQSEC2 protein...

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Detalles Bibliográficos
Autores principales:	Shoubridge, Cheryl, Dudding‐Byth, Tracy, Pasquier, Laurent, Goel, Himanshu, Yap, Patrick, McConnell, Vivienne
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2022
Materias:	Short Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325495/ https://www.ncbi.nlm.nih.gov/pubmed/35347702 http://dx.doi.org/10.1111/cge.14136

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