Loss of function mutations in CCDC32 cause a congenital...

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Human Molecular Genetics 2020 / 04

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

Harel, Tamar, Griffin, John N, Arbogast, Thomas, Monroe, Tanner O, Palombo, Flavia, Martinelli, Marcella, Seri, Marco, Pippucci, Tommaso, Elpeleg, Orly, Katsanis, Nicholas
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Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddaa073
Date:
April, 2020
File:
PDF, 1.12 MB
2020
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