A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome
Author:
Affiliation:
1. Department of Biochemistry, Faculty of Biological Sciences Quaid‐i‐Azam University Islamabad Pakistan
2. Institute of Human Genetics University of Ulm Ulm Germany
3. Cologne Center for Genomics (CCG) University of Cologne Cologne Germany
Funder
Higher Education Commission, Pakistan
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12244
Reference20 articles.
1. Novel homozygous sequence variants in the CDH3 gene encoding P‐cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families;Ahmad F.;European Journal of Dermatology,2016
2. Stem Cell Depletion Through Epidermal Deletion of Rac1
3. BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies
4. Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome
5. Rac1 Is Crucial for Hair Follicle Integrity but Is Not Essential for Maintenance of the Epidermis
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1. A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family;Genetics Research;2023-10-04
2. A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1;Anais Brasileiros de Dermatologia;2023-09
3. Role of Nectin‑4 protein in cancer (Review);International Journal of Oncology;2021-10-19
4. Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review;Genes;2021-05-17
5. Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance;Molecular Syndromology;2021
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