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Your search keyword '"Nao Miyazaki"' showing total 1 results
Start Over Author "Nao Miyazaki" Topic genetics
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1. A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts

Author

Ayane Yakabe, Tamaki Ikuse, Natsuki Ito, Hiromichi Yamada, Nobutomo Saito, Yuri Kitamura, Tomohiro Iwasaki, Mitsuru Ikeno, Hiroki Suganuma, Shinpei Abe, Nao Miyazaki, Ken Hisata, Hiromichi Shoji, Tomoyuki Nakazawa, Hidetaka Eguchi, and Toshiaki Shimizu

Subjects
Genetics, QH426-470, Life, QH501-531
Abstract

Abstract A 2-day-old neonate presented with seizures, multiple intracranial hemorrhages, and bilateral congenital cataracts. Targeted next-generation sequencing of the collagen type IV alpha 1 chain (COL4A1) gene revealed a heterozygous de novo missense variant (NM_001845.6:c.2291G>A/p.Gly764Asp). This missense variant adds to the compendium of COL4A1 variants and is associated with a COL4A1-related disorder.

Published
2022
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