ArticleAmerican journal of ophthalmology case reports2017
Article in American journal of ophthalmology case reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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
10 citing papers in PubMed, 10 citations in OpenAlex.
- Article
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy.Cureus · 2026Article
- Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights.International journal of molecular sciences · 2025Review
- The First Colombian Patient withSkin appendage disorders · 2025Article
- Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report.BMC ophthalmology · 2021Article
- The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy.Molecular genetics & genomic medicine · 2021Article
- Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.Molecular genetics & genomic medicine · 2019Article
- A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia.American journal of ophthalmology case reports · 2019Article
- Genetic Hair Disorders: A Review.Dermatology and therapy · 2019Review
- Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeOBSERVATIONS: We present a 13-year-old Turkish girl who experienced gradual bilateral visual deterioration with marked hair loss. Hair-pull test results and scalp skin texture were normal. The eyebrows and eyelashes were normal, and no abnormality in the teeth, nails, or limbs was detected. Fundus examination revealed bilateral ring-shaped atrophy of the retinal pigment epithelium with patchy intraretinal pigment clumping at the posterior pole. DNA sequencing analysis detected a novel homozygous deletion (c.447_467del (p.149_156del)) in exon 5 of the CONCLUSIONS AND IMPORTANCE: This case of HJMD was related to a novel homozygous mutation, termed c.447_467del (p.149_156del). These findings have significance for the future mutational analysis and genetic counseling of families with HJMD, particularly in our region. The presence of sparse hair in childhood, with or without limb anomalies, should alert clinicians to request an eye consultation. Pediatricians, dermatologists, and ophthalmologists should be aware of the rarely seen entity of juvenile macular dystrophy with hypotrichosis.
Identifiers
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.