Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early onset periodontitis and palmoplantar hyperkeratosis. A previously reported missense mutation in the CTSC gene (NM_001814.4:c.899G>A:p.(G300D)) was identified in a homozygous state in two siblings diag...

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Detalles Bibliográficos
Autores principales: Erzurumluoglu, A. Mesut, Alsaadi, Muslim M., Rodriguez, Santiago, Alotaibi, Tahani S., Guthrie, Philip A. I., Lewis, Sian, Ginwalla, Aasiya, Gaunt, Tom R., Alharbi, Khalid K., Alsaif, Fahad M., Alsaadi, Basma M., Day, Ian N. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370501/
https://www.ncbi.nlm.nih.gov/pubmed/25799584
http://dx.doi.org/10.1371/journal.pone.0121351

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370501/
https://www.ncbi.nlm.nih.gov/pubmed/25799584
http://dx.doi.org/10.1371/journal.pone.0121351

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