Autor: Jing Chen
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SEPTIN9 R106W in a Chinese family with hereditary neuralgic amyotrophy: phenotypic heterogeneity and rehabilitation in a pediatric case
IntroductionHereditary neuralgic amyotrophy (HNA) is a rare autosomal dominant recurrent focal neuropathy characterized by acute episodes of severe neuropathic pain followed by muscle weakness and atrophy, most commonly affecting the brachial plexus. P…
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Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections
BackgroundHeterozygous variants in the ZEB2 gene are known to cause Mowat–Wilson syndrome (MWS). The classical clinical spectrum of MWS includes characteristic facial features, intellectual disability, epilepsy, Hirschsprung disease (HSCR), and various…