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Homozygous Variants in WDR83OS Lead to a Neurodevelopmental Disorder with Hypercholanemia

Scott Barish,Sheng-Jia Lin,Reza Maroofian,Alper Gezdirici, Hamoud Alhebby,Aurelien Trimouille, Marta Biderman Waberski,Tadahiro Mitani, Ilka Huber,Kristian Tveten,Oystein L. Holla,Oyvind L. Busk,Henry Houlden,Ehsan Ghayoor Karimiani,Mehran Beiraghi Toosi,Reza Shervin Badv,Paria Najarzadeh Torbati,Fatemeh Eghbal,Javad Akhondian, Ayat Al Safar,Abdulrahman Alswaid,Giovanni Zifarelli,Peter Bauer,Dana Marafi,Jawid M. Fatih,Kevin Huang,Cassidy Petree,Daniel G. Calame,Charlotte von der Lippe,Fowzan S. Alkuraya,Sami Wali,James R. Lupski,Gaurav K. Varshney,Jennifer E. Posey,Davut Pehlivan

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

Cited 0|Views6
Key words
WDR83OS,ASTERIX,PAT complex,CCDC47,hypercholanemia,pruritus,developmental delay,intellectual disability,ER translocation
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