Biallelic Variants in MRPL49 Cause Variable Clinical Presentations, Including Sensorineural Hearing Loss, Leukodystrophy, and Ovarian Insufficiency.
Huw B Thomas,Leigh A M Demain,Alfredo Cabrera-Orefice,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 American journal of human genetics（2025）
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