Publication
A 24‐generation‐old founder mutation impairs splicing of
RBBP8
in Pakistani families affected with Jawad syndrome
Emrah Kaygusuz, Arwa Ishaq A. Khayyat, Uzma Abdullah, Birgit Susanne Budde, Maria Asif, Ilyas Ahmed, Ehtisham Ul Haq Makhdoom, Ilknur Sur‐Erdem, Jamshaid Mahmood Baig, Muhammad Mohsin Ali Khan, Mohammad Reza Toliat, Christian Becker, Haseeb Anwar, Maria Iqbal, Sarah Fischer, Muhammad Jameel, Muhammad Sher, Muhammad Tariq, Naveed Altaf Malik, Angelika A. Noegel, Muhammad Jawad Hassan, Holger Thiele, Sigrid Tinschert, Ludwig Eichinger, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Clinical Genetics, July 2021, Wiley
DOI: 10.1111/cge.14028