A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project
Besides reporting 17 novel variants in 14 genes (<i>BLM</i>, <i>CACNA1B</i>, <i>EDA</i>, <i>ELN</i>, <i>ENG</i>, <i>ERC6</i>, <i>EVC2</i>, <i>PNPLA1</i>, <i>PITCH1</i>, <i>PORCN</i>, <i>SIN3A</i>, <i>TP63</i>, <i>TYR</i>, and <i>WNT10B</i>), the study also identified three atypical clinical presentations due to dual diagnoses, and the c.454C>T variant in the <i>SDR9C7</i> gene, previously reported only in dogs, was, for the first time, confirmed as causative for ichthyosis in humans.
Authors
- Carolina Moreno (ORCID: https://orcid.org/0000-0001-7311-7793)
- Antonia Paula Marques‐de‐Faria (ORCID: https://orcid.org/0000-0002-5454-8982)
- Vera Lúcia Gil‐da‐Silva‐Lopes (ORCID: https://orcid.org/0000-0003-1288-0554)
- Maria Beatriz Puzzi (ORCID: https://orcid.org/0000-0001-8248-7884)
- Carlos Eduardo Steiner (ORCID: https://orcid.org/0000-0001-5148-3063)
- Ruy Pires de Oliveira Sobrinho (ORCID: https://orcid.org/0000-0002-5292-2344)
Institutions
- Universidade Estadual de Campinas (UNICAMP) (BR)
- Hospital Israelita Albert Einstein (BR)
Publication Details
- Journal
- Genes
- Published
- 2025-04-29
- DOI
- https://doi.org/10.3390/genes16050522
- Citations
- 1
- Primary Topic
- Dermatological and Skeletal Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.82