research Inherited Epidermolysis Bullosa: A Clinical Case January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.