Phenotypic diversity and genetic complexity of PAX3 ‐related Waardenburg syndrome-Reference-Cited by-同舟云学术

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Phenotypic diversity and genetic complexity of PAX3 ‐related Waardenburg syndrome

Published:2020-09-29 Issue:12 Volume:182 Page:2951-2958
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Somashekar Puneeth H.¹,Upadhyai Priyanka¹,Narayanan Dhanya L.¹,Kamath Nutan²,Bajaj Shruti³,Girisha Katta M.¹^ORCID,Shukla Anju¹^ORCID

Affiliation:

1. Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education Manipal India

2. Department of Pediatrics Kasturba Medical College, Mangalore, Manipal Academy of Higher Education Manipal India

3. Suchak Hospital Mumbai India

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61893

Reference37 articles.

1. Phenotype/Genotype Correlations in a DFNB1 Cohort With Ethnical Diversity

2. Cooperative interactions between the two DNA binding domains of Pax3: Helix 2 of the paired domain is in the proximity of the amino terminus of the homeodomain;Apuzzo S.;Biochemistry,2007

3. Waardenburg syndrome: Novel mutations in a large Brazilian sample

4. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

5. Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome

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1. Clinical and genetic characteristics of the first Russian patient with a syndrome of craniofacial dysmorphia-deafness-anomalies of the upper limbs, caused by a mutation in the <i>PAX3</i> gene;Neuromuscular Diseases;2023-10-30

2. A Novel Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type IV;2023-03-09

3. A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome;BMC Medical Genomics;2022-11-03

4. Biallelic variants in PAX3 cause Klein syndrome;Clinical Genetics;2022-06-05

5. Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness;Frontiers in Genetics;2021-12-08

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