EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay-Reference-Cited by-同舟云学术

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

Published:2020-09-15 Issue:6 Volume:98 Page:555-561
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Umair Muhammad¹^ORCID,Ballow Mariam¹,Asiri Abdulaziz¹,Alyafee Yusra¹,Tuwaijri Abeer¹,Alhamoudi Kheloud M.¹,Aloraini Taghrid²,Abdelhakim Marwa³,Althagafi Azza Thamer³⁴^ORCID,Kafkas Senay³,Alsubaie Lamia⁵,Alrifai Muhammad Talal⁶,Hoehndorf Robert³,Alfares Ahmed⁷^ORCID,Alfadhel Majid¹⁸^ORCID

Affiliation:

1. Medical Genomics Research Department King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH) Riyadh Saudi Arabia

2. Department of Pathology and Laboratory Medicine King Abdulaziz Medical City Riyadh Saudi Arabia

3. Computer, Electrical and Mathematical Sciences & Engineering Division Computational Bioscience Research Center, King Abdullah University of Science and Technology Thuwal Saudi Arabia

4. College of Computers and Information Technology, Taif University Taif Saudi Arabia

5. Division of Genetics, Department of Pediatrics King Abdulaziz Medical City Riyadh Saudi Arabia

6. Department of Pediatrics, Division of Neurology King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGH) Riyadh Saudi Arabia

7. Department of Pediatrics College of Medicine, Qassim University Saudi Arabia

8. Division of Genetics, Department of Pediatrics King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City Riyadh Saudi Arabia

Funder

King Abdullah International Medical Research Center

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13842

Reference28 articles.

1. Comprehensive Characterization of Genes Required for Protein Folding in the Endoplasmic Reticulum