Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 (SLCO2A1) Gene Underlies Isolated Nail Clubbing

Background: Inherited isolated nail clubbing is a very rare Mendelian condition in humans, characterized by enlargement of the terminal segments of fingers and toes with thickened nails. Mutations in two genes have been reported to cause isolated nail clubbing in humans, which are the SLCO2A1 gene a...

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Detalles Bibliográficos
Autores principales: Umair, Muhammad, Bilal, Muhammad, Shah, Khadim, Said, Gulab, Ahmad, Farooq
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957043/
https://www.ncbi.nlm.nih.gov/pubmed/36833358
http://dx.doi.org/10.3390/genes14020430

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957043/
https://www.ncbi.nlm.nih.gov/pubmed/36833358
http://dx.doi.org/10.3390/genes14020430

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