Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report
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DOI: 10.3389/fgene.2023.1179163
Abstract: Raine syndrome is a congenital disorder caused by biallelic mutations in the FAM20C gene. While most diagnosed cases of the syndrome are lethal in the first few months of life, there are also reports of… read more here.
Keywords: raine syndrome; heterozygous fam20c; compound heterozygous; fam20c gene ... See more keywords