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Article

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.

Journal of human genetics - 1 Dec 2021

Watanabe Kazuki, Nakashima Mitsuko, Kumada Satoko, Mashimo Hideaki, Enokizono Mikako, Yamada Keitaro, Kato Mitsuhiro, Saitsu Hirotomo

Abstract excerpt

Heterozygous variants in TUBB encoding one of β-tubulin isotypes are known to cause two overlapping developmental brain disorders, complex cortical dysplasia with other brain malformations (CDCBM) and congenital symmetric circumferential skin creases (CSCSC). To date, six cases of CSCSC and eight cases of CDCBM caused by nine heterozygous variants have been reported. Here we report two cases with novel de novo...

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PMID: 34211110
DOI: 10.1038/s10038-021-00956-4

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