Novel homozygous pathogenic mitochondrial <i>DNAJC19</i> variant in a patient with dilated cardiomyopathy and global developmental delay-Reference-Cited by-同舟云学术

Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay

Published:2022-05-25 Issue:8 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Al Tuwaijri Abeer¹,Alyafee Yusra¹^ORCID,Alharbi Mashael¹,Ballow Maryam¹,Aldrees Mohammed¹,Alam Qamre¹,Sleiman Rola A.²,Umair Muhammad¹,Alfadhel Majid¹³^ORCID

Affiliation:

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

2. Dr. Sulaiman Al‐Habib Group Al‐Rayan Hospital Riyadh Saudi Arabia

3. Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG‐HA) Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1969

Reference19 articles.

1. Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome

2. Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

3. Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

4. MutatedRAP1GDS1causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

5. Cardiolipin remodeling in Barth syndrome and other hereditary cardiomyopathies

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