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

Autor: Chandra Konda S; Department of Dermatology, SVS Medical College, Yenugonda, Mahabubnagar, Telangana, India., Biswas A; Department of Orthogenetics Lab and Orthopedics, All India Institute of Medical Sciences, New Delhi, India., Konda A; Department of Medical Student, SVS Medical College, Paulsabgutta, Mahbubnagar, Telangana, India., Raghavendra Rao V; Department of Genetics, Genome Foundation, Hyderabad, Telangana, India., Adepu V; Consultant Dermatologist, Dr Vilas Skin and Hair Center, Banjara Hills, Hyderabad, Telangana, India.

Publikováno v: Indian journal of dermatology, venereology and leprology [Indian J Dermatol Venereol Leprol] 2024 Mar 02, pp. 1-5. Date of Electronic Publication: 2024 Mar 02.