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

Affiliations

• 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.