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