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

Internet

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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