Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome

The Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple cancers. The causative point mutation in the STK11 gene of most patients accounts for about 30% of the ca...

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Detalles Bibliográficos
Autores principales: Souza, Josiane, Faucz, Fábio, Sotomaior, Vanessa, Filho, Aguinaldo Bonalumi, Rosenfeld, Jill, Raskin, Salmo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2011
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3229108/
https://www.ncbi.nlm.nih.gov/pubmed/22215957
http://dx.doi.org/10.1590/S1415-47572011005000044

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