Article
Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.
Molecular genetics & genomic medicine - 1 Sept 2024
Finnegan Rebecca, O'Regan Mary, White Máire, Cavalleri Gianpiero L, Delanty Norman, Benson Katherine A, Greally Marie T
Abstract excerpt
BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of neurometabolic diseases that result from genetic defects in the glycosylation of proteins and/or lipids. Multiple pathogenic genes contribute to the varying reported phenotypes of individuals with CDG-1 syndromes, most of which are inherited as autosomal recessive traits, although X-linked inheritance has also been reported. Pathogenic...
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