Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.

doi:10.1038/s10038-021-00932-y

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Article

Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.

Journal of human genetics - 1 Nov 2021

Miyamoto Sachiko, Kato Mitsuhiro, Hiraide Takuya, Shiohama Tadashi, Goto Tomohide, Hojo Akira, Ebata Akio, Suzuki Manabu, Kobayashi Kozue, Chong Pin Fee, Kira Ryutaro, Matsushita Hiroko Baber, Ikeda Hiroko, Hoshino Kyoko, Matsufuji Mayumi, Moriyama Nobuko, Furuyama Masayuki, Yamamoto Tatsuya, Nakashima Mitsuko, Saitsu Hirotomo

Abstract excerpt

Corpus callosum anomalies (CCA) is a common congenital brain anomaly with various etiologies. Although one of the most important etiologies is genetic factors, the genetic background of CCA is heterogenous and diverse types of variants are likely to be causative. In this study, we analyzed 16 Japanese patients with corpus callosum anomalies to delineate clinical features and the genetic background of CCAs. We...

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PMID: 33958710
DOI: 10.1038/s10038-021-00932-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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