Hamartoma Syndrome, Multiple

Mutazione del gene PTEN; melanocitosi dermica congenita

2026/1 — pag. 60 — DOI

Sindrome dello spettro autistico e macrocefalia: la sindrome di Cowden

Iacono A, Parmeggiani G, Mellino C, Moschettini V, Marchetti F.

2022/5 — pag. 330-332 — DOI

The paper reports the story of a 4-year-old boy presenting with macrocephaly and autism spectrum disorder. Genetic testing for an overgrowth syndrome revealed the presence of a heterozygous mutation in the PTEN gene, responsible for Cowden syndrome. ...

Sindrome dello spettro autistico e macrocefalia: la sindrome di Cowden

Iacono A, Parmeggiani G, Mellino C, Moschettini V, Marchetti F

2022/5 — pag. 97-101 — DOI

The paper reports the story of a 4-year-old boy presenting with macrocephaly and autism spectrum disorder. Genetic testing for an overgrowth syndrome revealed the presence of a heterozygous mutation in the PTEN gene, responsible for Cowden syndrome. ...

Lo spettro delle manifestazioni legate alla mutazione del gene PTEN

V. Graziani, S. Dal Bo, A. Sensi, C. Rossi, L. Vignutelli, L. Berretti, F. Marchetti

2017/5 — pag. 303-308

Mutations of tumour suppressor gene PTEN (Phosphatase and Tensin homologue deleted on chromosome 10) predispose to phenotypically diverse disorders, with several overlapping clinical features, collectively classified as PTEN hamartoma tumour syndro...

PTEN, un’incredibile variabilità di espressione

M.C. Pellegrin, M. Mariani, S. Maitz, F. Bertola, A. Selicorni

2016/7

Isolati, multipli, ereditari: le tante facce dei polipi intestinali

C. Pierobon, M. Flammini, V. Moressa, S. Martelossi, A. Ventura

2015/1 — pag. 16-24

This article provides a critical review of the clinical presentation, pathology, genetics and management of the polyposis in childhood starting from the isolated juvenile polyp to the hereditary polyposis syndromes. These include the juvenile polyp...