@article{400a7876177a4b569bf83b77651764f3,
title = "Biallelic loss of EMC10 leads to mild to severe intellectual disability",
abstract = "The endoplasmic reticulum membrane protein complex subunit 10 (EMC10) is a highly conserved protein responsible for the post-translational insertion of tail-anchored membrane proteins into the endoplasmic reticulum in a defined topology. Two biallelic variants in EMC10 have previously been associated with a neurodevelopmental disorder. Utilizing exome sequencing and international data sharing we have identified 10 affected individuals from six independent families with five new biallelic loss-of-function and one previously reported recurrent EMC10 variants. This report expands the molecular and clinical spectrum of EMC10 deficiency, provides a comprehensive dysmorphological assessment and highlights an overlap between the clinical features of EMC10-and EMC1-related disease.",
author = "Rauan Kaiyrzhanov and Clarissa Rocca and Mohnish Suri and Sughra Gulieva and Zaki, {Maha S.} and Henig, {Noa Z.} and Karine Siquier and Ulviyya Guliyeva and Mounir, {Samir M.} and Daphna Marom and Aynur Allahverdiyeva and Hisham Megahed and {van Bokhoven}, Hans and Vincent Cantagrel and Aboulfazl Rad and Alemeh Pourkeramti and Boshra Dehghani and Shao, {Diane D.} and Keren Markus-Bustani and Efrat Sofrin-Drucker and Naama Orenstein and Kamran Salayev and Filippo Arrigoni and Henry Houlden and Reza Maroofian",
note = "Publisher Copyright: {\textcopyright} 2022 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.",
year = "2022",
month = jul,
doi = "10.1002/acn3.51602",
language = "אנגלית",
volume = "9",
pages = "1080--1089",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "John Wiley & Sons Inc.",
number = "7",
}