Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris-Reference-Cited by-同舟云学术

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Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris

Published:2024-02-26 Issue: Volume: Page:
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Macaskill Laura¹,Reali Lisa²,Naik Swati³

Affiliation:

1. Neonatal Department, Birmingham Heartlands Hospital, Bordesley Green East

2. West Midlands Regional Genetics Laboratory, Birmingham Women’s NHS Foundation Trust, Edgbaston

3. Clinical Genetics Department, Birmingham Women’s and Children’s NHS Foundation Trust, Edgbaston, Birmingham, UK

Publisher

Ovid Technologies (Wolters Kluwer Health)

Reference5 articles.

1. Genome Aggregation Database (gnomAD) - A genome-wide mutational constraint map quantified from variation in 76,156 human genomes.;Chen;bioRxiv,2022

2. A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.;Choi;BMC Ophthalmol,2018

3. Ensembl 2021.;Howe;Nucleic Acids Res,2021

4. Case Report: a novel PAX3 mutation associated with Waardenburg syndrome type 1.;Hu;Front Genet,2021

5. The Database of Genomic Variants: the database of genomic variants: a curated collection of structural variation in the human genome.;MacDonald;Nucleic Acids Res,2013

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