Type VI Aplasia Cutis Congenita: Bart's Syndrome

Por Kulalı, Ferit, Bas, Ahmet Yagmur, Kale, Yusuf, Celik, Istemi Han, Demirel, Nihal, Apaydın, Sema
Publicado no Case Rep Dermatol Med (2015)

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects

Por Woutsas, Stavroula, Aytekin, Caner, Salzer, Elisabeth, Conde, Cecilia Domínguez, Apaydin, Sema, Pichler, Herbert, Memaran-Dadgar, Nima, Hosnut, Ferda Ozbay, Förster-Waldl, Elisabeth, Matthes, Susanne, Huber, Wolf-Dietrich, Lion, Thomas, Holter, Wolfgang, Bilic, Ivan, Boztug, Kaan
Publicado no Blood (2015)