EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

In recent years, several genes have been implicated in the variable disease presentation of global developmental delay (GDD) and intellectual disability (ID). The endoplasmic reticulum membrane protein complex (EMC) family is known to be involved in GDD and ID. Homozygous variants of EMC1 are associ...

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Detalles Bibliográficos
Autores principales: Umair, Muhammad, Ballow, Mariam, Asiri, Abdulaziz, Alyafee, Yusra, al Tuwaijri, Abeer, Alhamoudi, Kheloud M., Aloraini, Taghrid, Abdelhakim, Marwa, Althagafi, Azza Thamer, Kafkas, Senay, Alsubaie, Lamia, Alrifai, Muhammad Talal, Hoehndorf, Robert, Alfares, Ahmed, Alfadhel, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7756316/
https://www.ncbi.nlm.nih.gov/pubmed/32869858
http://dx.doi.org/10.1111/cge.13842

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