Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Björn Fischer; Aikaterini Dimopoulou; Johannes Egerer; Thatjana Gardeitchik; Alexa Kidd; Dominik Jost; Hülya Kayserili; Yasemin Alanay; Iliana Tantcheva-Poor; Elisabeth Mangold; Cornelia Daumer-Haas; Shubha Phadke; Reto I. Peirano; Julia Heusel; Charu Desphande; Neerja Gupta; Arti Nanda; Emma Felix; Elisabeth Berry-Kravis; Madhulika Kabra; Ron A. Wevers; Lionel van Maldergem; Stefan Mundlos; Eva Morava; Uwe Kornak