MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome
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Author / Creator
Kato, Kohji , Miya, Fuyuki , Hamada, Nanako , Negishi, Yutaka , Narumi-Kishimoto, Yoko , Ozawa, Hiroshi , Ito, Hidenori , Hori, Ikumi , Hattori, Ayako , Okamoto, Nobuhiko , Kato, Mitsuhiro , Tsunoda, Tatsuhiko , Kanemura, Yonehiro , Kosaki, Kenjiro , Takahashi, Yoshiyuki , Nagata, Koh-ichi and Saitoh, Shinji
Publisher
England: BMJ Publishing Group Ltd
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Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Contents
BackgroundIn this study, we aimed to identify the gene abnormality responsible for pathogenicity in an individual with an undiagnosed neurodevelopmental disorder with megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly and neuroblastoma. We then explored the underlying molecular mechanism.MethodsTrio-...
Alternative Titles
Full title
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome
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Record Identifier
TN_cdi_proquest_miscellaneous_2159985130
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2159985130
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ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2018-105487
