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Article

Heterozygous nonsense variant of CHD8 in a patient with forme-fruste Marfan syndrome and intellectual disability.

Congenital anomalies - 1 Jan 2021

Yamada Mamiko, Yamaguchi Yu, Uehara Tomoko, Yagihashi Tatsuhiko, Kosaki Kenjiro

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PMID: 32951261
DOI: 10.1111/cga.12393

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