Autor: Carmen Manso-Bazús
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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 factor…