ArticleGenes2025
A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.
Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Shagreen Patch in Tuberous Sclerosis Complex at High-Frequency Ultrasound.Diagnostics (Basel, Switzerland) · 2025Article
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Authors and funding
7 authors.
Funding
Abstract
BACKGROUND/
objectivesGenodermatoses are genetic conditions with clinical symptoms manifesting in the skin and adjoining tissues, individually rare but comprising a large and heterogeneous group of disorders that represents 15% of genetic diseases. This article discusses the results of individuals with genodermatoses from a reference center for rare diseases studied through whole genome sequencing conducted by the Brazilian Rare Genomes Project between 2021 and 2023.
methodsA retrospective case series with data comprising sex, age at first assessment in the hospital, family history, clinical findings, and molecular results.
resultsExcluding neurofibromatosis type 1, Ehlers-Danlos syndrome and RASopathies are discussed elsewhere. Diagnoses in this work comprised ectodermal dysplasias (
conclusionsBesides reporting 17 novel variants in 14 genes (
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