ArticleNeurology2006
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.
Article in Neurology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
44 citing papers in PubMed, 96 citations in OpenAlex.
- Article
- The First Case of 4H Syndrome with Type 1 Diabetes MellitusJournal of clinical research in pediatric endocrinology · 2025Article
- Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.Molecular genetics & genomic medicine · 2024Article
- Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inJournal of medical genetics · 2023Article
- Uncertain significance mutation in the POLR3B gene in a Syrian boy with leukodystrophy: a case report.Annals of medicine and surgery (2012) · 2023Article
- Article
- RNA Polymerases I and III in development and disease.Seminars in cell & developmental biology · 2023Review
- Biallelic pathogenic variants inFrontiers in neurology · 2023Article
- Genetics of pubertal delay.Clinical endocrinology · 2022Review
- The E3 ubiquitin ligase RNF216/TRIAD3 is a key coordinator of the hypothalamic-pituitary-gonadal axis.iScience · 2022Article
- Clinical and imaging characteristics of 4H syndrome: A case report.CNS neuroscience & therapeutics · 2022Article
- Interpretation of reproductive hormones before, during and after the pubertal transition-Identifying health and disordered puberty.Clinical endocrinology · 2021Review
- Movement Disorders Associated with Hypogonadism.Movement disorders clinical practice · 2021Review
- Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy.Frontiers in neurology · 2021Article
- RNA Polymerase III Subunit Mutations in Genetic Diseases.Frontiers in molecular biosciences · 2021Review
- POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?Faculty reviews · 2021Review
- Article
- Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.Neurology. Genetics · 2020Article
- 4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis.Neurology. Genetics · 2020Article
- Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.BMC pediatrics · 2019Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
We identified four unrelated patients (three female, one male) aged 20 to 30 years with hypomyelination, pituitary hypogonadotropic hypogonadism, and hypodontia. Electron microscopy and myelin protein immunohistochemistry of sural nerves showed granular debris-lined clefts, expanded abaxonal space, outpocketing with vacuolar disruption, and loss of normal myelin periodicity. Reduced galactocerebroside, sphingomyelin, and GM1-N-acetylglucosamine and increased esterified cholesterol were found. This is a clinically homogeneous progressive hypomyelinating disorder. The term 4H syndrome is suggested.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.