THUMPD1 is a new cause of syndromic intellectual developmental disorder
Martin Broly,Bertrand Isidor,Thomas Besnard,Declan O'Rourke,Julia Baptista,Sian Ellard,Mohammed Almannai, Hashem Mais Omar,Ferdous Abdulwahab,Hanan Shamseldin,Saeed Al-Tala,Fowzan S. Alkuraya,Alberta Leon, R. L. E. van Loon,Alessandra Ferlini,Mariabeatrice Sanchini,Stefania Bigoni,Mitchell O'Connell,Bogdan Polevoda,Kamel Awayda,Stephane Bezieau,Benjamin Cogne EUROPEAN JOURNAL OF HUMAN GENETICS(2022)
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