A New Variant of the PTEN Gene in Relation to Cowden Syndrome Type 1-Reference-Cited by-同舟云学术

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A New Variant of the PTEN Gene in Relation to Cowden Syndrome Type 1

Published:2024-05 Issue:3 Volume:69 Page:274-276
ISSN:0019-5154
Container-title:Indian Journal of Dermatology
language:en
Short-container-title:

Author:

Fernández-Villares Marina¹,Villegas-Romero Isabel²,Collantes-Rodríguez Cristina²,Linares-Barrios Mario²,Benito-Godino Ana S.¹,Mora-Lopez Francisco³

Affiliation:

1. From the Department of Medicine Laboratory, Puerta del Mar University Hospital, Cádiz, Spain

2. Department of Dermatology and Venereology, Puerta del Mar University Hospital, Cádiz, Spain

3. Department of Immunology, Puerta del Mar University Hospital, Cádiz, Spain E-mail: marina.fdez.villares@gmail.com

Publisher

Medknow

Reference5 articles.

1. Predicting PTEN mutations:An evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features;Pilarski;J Med Genet,2011

2. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome;Marsh;Hum Mol Genet,1999

3. Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance:Results of a clinical study of PTEN mutation carriers;Lachlan;J Med Genet,2007

4. The nuclear affairs of PTEN;Planchon;J Cell Sci,2008

5. PI3K/mTORC1 activation in hamartoma syndromes:Therapeutic prospects;Krymskaya;Cell Cycle,2009

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