Congenital disorder of glycosylation with defective fucosylation 2 ( FCSK gene defect): The third report in the literature with a mild phenotype

Author:

Al Tuwaijri Abeer123,Alyafee Yusra1ORCID,Umair Muhammad12,Alsubait Arwa24ORCID,Alharbi Mashael12,AlEidi Hamad12,Ballow Mariam12,Aldrees Mohammed12,Alam Qamre12,Al Abdulrahman Abdulkareem12,Alrifai Muhammad Talal5,Alfadhel Majid126ORCID

Affiliation:

1. Medical Genomics Research Department King Abdullah International Medical Research Center (KAIMRC) Riyadh Saudi Arabia

2. King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG‐HA) Riyadh Saudi Arabia

3. Clinical Laboratory Sciences Department College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences (KSAU‐HS) Riyadh Saudi Arabia

4. Medical Research Core Facilities and Platforms King Abdullah International Medical Research Center (KAIMRC) Riyadh Saudi Arabia

5. Neurology Division, Department of Pediatrics King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA) Riyadh Saudi Arabia

6. Genetics and Precision Medicine Department (GPM) King Abdullah Specialized Children's Hospital Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

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