Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

• DOI: 10.1016/j.ajhg.2025.02.005
• Publication Date: 2025-03-04T15:46:58Z
• Authors: Huw B. Thomas; Leigh A.M. Demain; Alfredo Cabrera-O...; Isabelle Schrauwen; Hanan E. Shamseldin; Alessandro Rea; Thashi Bharadwaj; Thomas B. Smith; Monika Oláhová; Kyle Thompson; Langping He; Namanpreet Kaur; Anju Shukla; Musaad Abukhalid; Muhammad Ansar; Sakina Rehman; Saima Riazuddin; Firdous Abdulwahab; Janine M. Smith; Zornitza Stark; Hanifenur Mancilar; Sait Tumer; Fatma N. Esen; Eyyup Uctepe; Vehap Topcu; Ahmet Yesilyurt; Erum Afzal; Mehri Salari; Christopher Carroll; Giovanni Zifarelli; Peter Bauer; Deniz Kor; Fatma D. Bulut; Henry Houlden; Reza Maroofian; Samantha Carrera; Wyatt W. Yue; Kevin J. Munro; Fowzan S. Alkuraya; Peter Jamieson; Zubair M. Ahmed; Suzanne M. Leal; Robert W. Taylor; Ilka Wittig; Raymond T. O’Keefe; William G. Newman