Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microc...
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Pontocerebellar hypoplasia (PCH) is a heterogeneous neurodegenerative disorder with a prenatal onset. Using whole-exome sequencing, we identified variants in the gene Coenzyme A (CoA) synthase (COASY) gene, an enzyme essential in CoA synthesis, in four individuals from two families with PCH, prenatal onset microcephaly, and arthrogryposis. In famil...
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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6244412
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6244412
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0233-0
