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/>

被引：0

作者：

Mansilla-Polo, Miguel ^{[1
,3
]}

Escutia-Munoz, Begona ^{[1
,3
]}

Llavador-Ros, Margarita ^{[2
]}

Botella-Estrada, Rafael ^{[1
,3
,4
]}

机构：

[1] Hosp Univ & Politecn La Fe, Dermatol Dept, Valencia, Spain

[2] Hosp Univ & Politecn La Fe, Pathol Dept, Valencia, Spain

[3] Inst Invest Sanitaria La Fe IIS La Fe, Valencia, Spain

[4] Univ Valencia, Fac Med, Valencia, Spain

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2024年 / 49卷 / 02期

关键词：

D O I：

10.1093/ced/llad344

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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.

引用

页码：203 / 205

页数：3

Identification of c.104T&gt;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/>

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/>