Ectodermal dysplasia-skin fragility syndrome – identification of a novel plakophilin1 (<i>PKP1</i>) gene variant through whole exome sequencing-Reference-Cited by-同舟云学术

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Ectodermal dysplasia-skin fragility syndrome – identification of a novel plakophilin1 (PKP1) gene variant through whole exome sequencing

Published:2024-03-02 Issue: Volume:0 Page:1-5
ISSN:0973-3922
Container-title:Indian Journal of Dermatology, Venereology and Leprology
language:en
Short-container-title:IJDVL

Author:

Chandra Konda Sharath¹,Biswas Amitabh²,Konda Amritha³,Raghavendra Rao Vadlamudi⁴,Adepu Vilas⁵

Affiliation:

1. Department of Dermatology, SVS Medical College, Yenugonda, Mahabubnagar, Telangana, India

2. Department of Orthogenetics Lab and Orthopedics, All India Institute of Medical Sciences, New Delhi, India

3. Department of Medical Student, SVS Medical College, Paulsabgutta, Mahbubnagar, Telangana, India

4. Department of Genetics, Genome Foundation, Hyderabad, Telangana, India

5. Consultant Dermatologist, Dr Vilas Skin and Hair Center, Banjara Hills, Hyderabad, Telangana, India,

Publisher

Scientific Scholar

Reference21 articles.

1. Plakophilin 1: An important stabiliser of desmosomes;South;Clin Exp Dermatol,2004

2. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome;McGrath;Nat Genet,1997

3. Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families;Sprecher;J Invest Dermatol,2004

4. Ectodermal dysplasia-skin fragility syndrome;Adhe;Indian J Dermatol Venereol Leprol,2011

5. Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis;Doolan;Exp Dermatol,2020

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