Ontology highlight
ABSTRACT:
SUBMITTER: Umair M
PROVIDER: S-EPMC7756316 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Umair Muhammad M Ballow Mariam M Asiri Abdulaziz A Alyafee Yusra Y Al Tuwaijri Abeer A Alhamoudi Kheloud M KM Aloraini Taghrid T Abdelhakim Marwa M Althagafi Azza Thamer AT Kafkas Senay S Alsubaie Lamia L Alrifai Muhammad Talal MT Hoehndorf Robert R Alfares Ahmed A Alfadhel Majid M
Clinical genetics 20200915 6
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 associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders. EMC10 is a bone marrow-derived angiogenic growth factor that plays an important r ...[more]