Portal de investigación
Identification of c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN as the causative factor for Cowden syndrome: a medical case study
Autores de IIS La Fe
Grupos
Abstract
A representative case of Cowden syndrome with florid mucocutaneous manifestations is presented. A genetic study revealed the c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN. A satisfactory response of skin lesions to sirolimus was obtained.
Datos de la publicación
- ISSN/ISSNe:
- 0307-6938, 1365-2230
- Tipo:
- Editorial Material
- Páginas:
- 203-205
- DOI:
- 10.1093/ced/llad344
- PubMed:
- 37819013
- Factor de Impacto:
- 0,487 SCImago ℠
- Cuartil:
- Q2 SCImago ℠
CLINICAL AND EXPERIMENTAL DERMATOLOGY OXFORD UNIV PRESS
Citas Recibidas en Web of Science: 1
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Cita
Mansilla M,Escutia B,Llavador M,Botella R. Identification of c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN as the causative factor for Cowden syndrome: a medical case study<show/>. Clin Exp Dermatol. 2024. 49(2):p. 203-205. IF:2,900. (2).