Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma

Palmoplantar keratoderma (PPK) is a defect in cornification that is characterized by progressive hyperkeratosis of palms and soles. Many phenotypes are linked with PPK, making exome-based diagnosis increasingly efficient. In this report, we identified tyrosinemia type II on whole-exome sequencing in...

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Detalles Bibliográficos
Autores principales: Hannah-Shmouni, Fady, MacNeil, Lauren, Lara-Corrales, Irene, Pope, Elena, Kannu, Peter, Sondheimer, Neal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881597/
https://www.ncbi.nlm.nih.gov/pubmed/31799120
http://dx.doi.org/10.1016/j.ymgmr.2019.100534

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881597/
https://www.ncbi.nlm.nih.gov/pubmed/31799120
http://dx.doi.org/10.1016/j.ymgmr.2019.100534

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