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Eileen E. Barr on Muck Rack

Eileen E. Barr

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Articles

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans - Nature Communications

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By Claudia Bonardi, Rikke S Møller, Nuria Ruiz-Reig, Allan Bayat, Elena Gardella, Monika Bekiesinska-Figatowska, Massimiliano Rossi, Gaetan Lesca, Evan Gouy, Monica H. Wojcik, Klaus Brusgaard, Fadel Tissir, Eileen E. Barr
| Nature Verified
Abstract The CELSR1 gene is a core component of the tissue/planar cell polarity signaling pathway. It encodes a developmentally regulated protein that belongs to the adhesion G protein-coupled receptors. Herein we describe seven subjects, from five unrelated families, featuring a neurodevelopmental disorder associated with biallelic CELSR1 variants.
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