An X‐linked syndrome with severe neurodevelopmental...

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Clinical Genetics 2020 / 11

An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene

Tripolszki, Kornelia, Sasaki, Erina, Hotakainen, Ronja, Kassim, Abdul Halim, Pereira, Catarina, Rolfs, Arndt, Bauer, Peter, Reardon, William, Bertoli‐Avella, Aida M.
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Journal:
Clinical Genetics
DOI:
10.1111/cge.13873
Date:
November, 2020
File:
PDF, 5.88 MB
2020
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