Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency
Author:
Affiliation:
1. Greenwood Genetic Center Greenwood South Carolina USA
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61574
Reference6 articles.
1. A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency
2. A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy
3. Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
4. Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation
5. Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype
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1. Syndromic ichthyoses;Medizinische Genetik;2023-04-03
2. A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency (DOLK-CDG);Endocrine, Metabolic & Immune Disorders - Drug Targets;2023-02
3. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives;Journal of Rare Diseases;2022-12-07
4. Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis;Frontiers in Genetics;2021-12-08
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