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

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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Bibliographic Details
Main Authors: 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: Text
Language:English
Published: Blackwell Publishing Ltd 2020
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Original Articles
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC7756316/
https://pubmed.ncbi.nlm.nih.gov/32869858
http://dx.doi.org/10.1111/cge.13842
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https://pmc.ncbi.nlm.nih.gov/articles/PMC7756316/
https://pubmed.ncbi.nlm.nih.gov/32869858
http://dx.doi.org/10.1111/cge.13842

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