An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene
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W. Reardon | P. Bauer | A. Bertoli-Avella | A. Rolfs | C. Pereira | Erina Sasaki | K. Tripolszki | Ronja Hotakainen | Abdul Halim Kassim