Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Eitemau Tebyg

• Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
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  Cyhoeddwyd: (2014)
• STAG3 truncating variant as the cause of primary ovarian insufficiency
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• The use of whole-exome sequencing to disentangle complex phenotypes
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• An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
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  Cyhoeddwyd: (2017)
• SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20
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  Cyhoeddwyd: (2018)