Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase
Author:
Affiliation:
1. Department of Pediatrics Peking University First Hospital BeijingChina
2. Department of Pediatrics Brain Hospital of Hunan Province ChangshaChina
3. Department of Neurology Hunan Children’s Hospital Changsha China
Funder
Natural Science Foundation of Beijing Municipality
Publisher
Wiley
Subject
Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.14976
Reference14 articles.
1. Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration
2. Crystal structure of cis-prenyl chain elongating enzyme, undecaprenyl diphosphate synthase
3. cis-Prenyltransferase: New Insights into Protein Glycosylation, Rubber Synthesis, and Human Diseases
4. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
5. Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation
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3. Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus;Frontiers in Genetics;2023-10-10
4. Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene;Seizure: European Journal of Epilepsy;2023-08
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