Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz–Jeghers Syndrome: Bioinformatic and Molecular Evidence

Peutz–Jeghers Syndrome (PJS) is an autosomal dominant pre-cancerous disorder caused in 80–90% of cases by germline mutations in the tumor suppressor gene STK11. We performed a genetic test of the STK11 gene in two Italian young sisters suspected of PJS, since they showed pathognomonic café au lait s...

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Detalles Bibliográficos
Autores principales: Cerasuolo, Andrea, Cammarota, Francesca, Duraturo, Francesca, Staiano, Annamaria, Martinelli, Massimo, Miele, Erasmo, Izzo, Paola, De Rosa, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7662643/
https://www.ncbi.nlm.nih.gov/pubmed/33147782
http://dx.doi.org/10.3390/ijms21218201

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7662643/
https://www.ncbi.nlm.nih.gov/pubmed/33147782
http://dx.doi.org/10.3390/ijms21218201

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