LAUSR

The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome

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1 Published in 2021 at "Clinical Genetics"

DOI: 10.1111/cge.14021

Abstract: Hydrolethalus syndrome (HLS) is a rare lethal fetal malformation disorder related to ciliogenesis disruption. This condition is more frequent in Finland where a founder missense variant in the HYLS1 gene was identified. No other HYLS1… read more here.

Keywords: hydrolethalus syndrome; phenotypic; hyls1; missense variant ... See more keywords