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Heterozygous nonsense variant of CHD8 in a patient with forme‐fruste Marfan syndrome and intellectual disability
Author(s) -
Yamada Mamiko,
Yamaguchi Yu,
Uehara Tomoko,
Yagihashi Tatsuhiko,
Kosaki Kenjiro
Publication year - 2021
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12393
Subject(s) - nonsense , medicine , intellectual disability , marfan syndrome , nonsense mutation , pediatrics , genetics , surgery , mutation , psychiatry , missense mutation , gene , biology