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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Détails bibliographiques
Publié dans:Clin Genet
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Blackwell Publishing Ltd 2020
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7756316/
https://ncbi.nlm.nih.gov/pubmed/32869858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13842
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