ArticleFrontiers in cell and developmental biology2021
An Early Diagnostic Clue for
Article in Frontiers in cell and developmental biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Novel LAMA1 Mutations in a Pedigree With Poretti-Boltshauser Syndrome: Implications for Hypomyelination.Molecular genetics & genomic medicine · 2026Article
- Genetic syndromes in paediatric alopecia areata: a systematic review.Skin health and disease · 2025Review
- Ophthalmologic Comorbidities in Alopecia Areata.Journal of clinical medicine · 2025Review
- A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.Medicina (Kaunas, Lithuania) · 2025Review
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.Global medical genetics · 2025Article
- Article
- Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.BMC neurology · 2024Article
- Identification and characterization of extrachromosomal circular DNA in patients with high myopia and cataract.Epigenetics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHigh myopia with alopecia areata in the occipital region has been observed in patients with Knobloch syndrome caused by
methodsSix patients with early onset high myopia and alopecia areata in the cranial midline were recruited. Targeted high-throughput sequencing was performed on the proband's DNA to detect potential pathogenic variants. Cosegregation analysis was performed for available family members. Minigene assay and RNA Sequencing were used to validate the abnormality of possible splicing change and gross deletion. Ophthalmological and neuroimaging examinations were performed.
resultsEight novel and one known loss-of-function mutants were detected in all six patients, including a gross deletion detected by RNA sequencing. Four
conclusionOur study found that early onset high myopia with midline alopecia areata could be caused not only by mutations of the
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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.