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...

Szczegółowa specyfikacja

Zapisane w:
Opis bibliograficzny
Wydane w:Clin Genet
Główni autorzy: 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
Język:Inglês
Wydane: Blackwell Publishing Ltd 2020
Hasła przedmiotowe:
Original Articles
Dostęp online: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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