B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature
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DOI: 10.1111/cge.13735
Abstract: A congenital disorder of glycosylation due to biallelic mutations in B4GALT1 has been previously reported in only three patients with two different mutations. Through homozygosity mapping followed by segregation analysis in an extended pedigree, we… read more here.
Keywords: b4galt1 congenital; congenital disorders; disorders glycosylation; phenotypic ... See more keywords