Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome

Background: Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities. MBS has been attributed to both environmental and genetic factors as potential causes. Until now only two genes,...

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Main Authors: Carmen Manso-Bazús, Nino Spataro, Elisabeth Gabau, Viviana P. Beltrán-Salazar, Juan Pablo Trujillo-Quintero, Nuria Capdevila, Anna Brunet-Vega, Neus Baena, A Arockia Jeyaprakash, Victor Martinez-Glez, Anna Ruiz
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Genetics
Subjects:
moebius syndrome
genetic diagnosis
CHN1
novel variant
congenital dysinnervation syndromes
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1291063/full

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