Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies-Reference-Cited by-同舟云学术

Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies

Published:2021-12 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

LeBlanc Samuel¹,Allain Eric P.²³⁴,Girouard Gabriel⁵,Mallet Marcel⁶,Amor Mouna Ben²^ORCID

Affiliation:

1. Centre de Formation Médicale du Nouveau‐Brunswick Université de Sherbrooke Moncton New Brunswick Canada

2. Department of Medical Genetics Vitalité Health Network Dr. Georges‐L.‐Dumont University Hospital Centre Moncton New Brunswick Canada

3. Atlantic Cancer Research Institute Pavillon Hôtel‐Dieu Moncton New Brunswick Canada

4. Department of Chemistry and Biochemistry New Brunswick Center for Precision Medicine, Université de Moncton Moncton New Brunswick Canada

5. Department of Medical Microbiology and Infectious Diseases Vitalité Health Network, Dr. Georges‐L.‐Dumont University Hospital Centre Moncton New Brunswick Canada

6. Department of Respirology Vitalité Health Network, Dr. Georges‐L.‐Dumont University Hospital Centre Moncton New Brunswick Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62586

Reference15 articles.

1. A Human Syndrome Caused by Immotile Cilia

2. Primary ciliary dyskinesia due to DRC1/CCDC164 gene mutation

3. Mouse Genome Database (MGD) 2019

4. Situs Inversus Totalis and Kartagener's Syndrome in a Japanese Population

5. Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1–4 of DRC1;Keicho N.;Molecular Genetics & Genomic Medicine,2019