Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.

Abstract

BACKGROUND PTEN gene (MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome. Bannayan-Riley-Ruvalcaba syndrome is considered as the pediatric form of PHTS. More recently, children presenting autism spectrum disorders with macrocephaly… (More)
DOI: 10.1016/j.ejpn.2014.11.012

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Cite this paper

@article{Busa2015ClinicalPO, title={Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.}, author={Tiffany Busa and M D Mathieu Milh and Nathalie Degardin and Nadine Girard and Sabine Sigaudy and Michel Longy and S Olshchwang and Hagay Sobol and Brigitte Chabrol and Nicole Philip}, journal={European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society}, year={2015}, volume={19 2}, pages={188-92} }