CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference14 articles.
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5. An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id);Denecke;Hum. Mutat.,2004
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2. Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome;Genes;2021-07-29
3. Clinical significance and mechanisms associated with segmental UPD;Molecular Cytogenetics;2021-07-20
4. ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings;BMC Ophthalmology;2021-06-05
5. Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG;Journal of Inherited Metabolic Disease;2021-03
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