Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2

por Schlaweck, Annika E., Tazi-Ahnini, Rachid, Ü. Basmanav, F. Buket, Mohungoo, Javed, Pasternack-Ziach, Sandra M., Mattheisen, Manuel, Oprisoreanu, Ana-Maria, Humbatova, Aytaj, Wolf, Sabrina, Messenger, Andrew, Betz, Regina C.
Publicado 2019

Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

por UDDIN, Syed Ashraf, CESARATO, Nicole, HUMBATOVA, Aytaj, SCHMIDT, Axel, REHMAN, Fazal UR, NAEEM, Muhammad, WOLF, Sabrina, TAREEN, Abdul Samad, PANEZAI, Muhammad Anwar, THIELE, Holger, WALI, Abdul, FÖLSTER-HOLST, Regina, BASIT, Sulman, AYUB, Muhammad, BETZ, Regina C.
Publicado 2020