Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly-Reference-Cited by-同舟云学术

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

Published:2019-05-21 Issue:7 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Umair Muhammad¹,Wasif Naveed²^ORCID,Albalawi Alia M.³,Ramzan Khushnooda⁴,Alfadhel Majid¹⁵,Ahmad Wasim⁶,Basit Sulman³^ORCID

Affiliation:

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

2. Institut für Human Genetik Ulm Universität Ulm Germany

3. Center for Genetics and Inherited Diseases Taibah University Medina Saudi Arabia

4. Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia

5. Division of Genetics, Department of Pediatrics King Abdullah Specialized Children’s Hospital (KASCH) Riyadh Saudi Arabia

6. Department of Biochemistry Quaid‐i‐Azam University Islamabad Pakistan

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.627

Reference23 articles.

1. New insights into genotype–phenotype correlation for GLI3 mutations

2. Gli Proteins in Development and Disease

3. Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations

4. A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation

5. Polydactyly: phenotypes, genetics and classification

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3. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly;European Journal of Human Genetics;2023-09-08

4. Two Novel Frameshift Mutations in the GLI3 Gene Underlie Non-Syndromic Polydactyly in Chinese Families;Genetic Testing and Molecular Biomarkers;2023-09-01

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