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A recurrent synonymous L1CAM variant in a fetus with hydrocephalus

I. Šubrt, T. Zavoral, L. Strych, M. Černá, M. Hejnalová, P. Komrsková, J. Tejcová

. 2024 ; 11 (1) : 4. [pub] 20240123

Status neindexováno Jazyk angličtina Země Anglie, Velká Británie

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc24005970

Grantová podpora
LM2023067 Ministerstvo Školství, Mládeže a Tělovýchovy (Ministry of Education, Youth and Sports)

We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant. Since we reproduced the RNA analysis, we were able to reclassify this variant as likely pathogenic. Our results stress the importance of not excluding synonymous variants during prioritization.

Citace poskytuje Crossref.org

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