A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts

A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts

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)...

Full description

Bibliographic Details
Main Authors: 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, Toshiaki Shimizu
Format: Article
Language:English
Published: Nature Publishing Group 2022-06-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-022-00199-5

Internet

https://doi.org/10.1038/s41439-022-00199-5

Similar Items