Clinical and genetic study of a pseudo-dominant retinoschisis pedigree: the first female patient reported in Chinese population
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2042702
Abstract: ABSTRACT Background The inheritance pattern of genetically confirmed hereditary juvenile retinoschisis reported so far is X-linked recessive with limited number of female cases. We identified a female patient with retinoschisis, and this study reports the… read more here.
Keywords: family; female patient; patient; pseudo dominant ... See more keywords
Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode
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DOI: 10.3389/fneur.2018.00594
Abstract: Chorea-acanthocytosis (ChAc) is a rare neurodegenerative movement disorder with variable clinical features, including movement disorders, cognitive decline, myopathy, neuropathy, behavioral changes, seizures and acanthocytosis. The majority of ChAc patients display an autosomal recessive mode of… read more here.
Keywords: mode; chorea acanthocytosis; inheritance; inheritance mode ... See more keywords