Biallelic postzygotic RASA1 variants in a germline-negative patient with capillary malformation-arteriovenous malformation

被引：0

作者：

Tournier, Celine Granier ^{[1
]}

Severino-Freire, Maella ^{[1
]}

Mazereeuw-Hautier, Juliette ^{[1
]}

Denos, Charlene ^{[1
]}

Piard, Juliette ^{[2
,3
]}

Vabres, Pierre ^{[3
,4
,5
]}

Kuentz, Paul ^{[3
,6
,7
]}

机构：

[1] CHU Toulouse, Hop Larrey, Reference Ctr Rare Skin Dis, Dept Dermatol, Toulouse, France

[2] CHU Besancon, Ctr Genet Humaine, Besancon, France

[3] Univ Bourgogne Franche Comte, INSERM, FHU TRANSLAD, GAD Genet Anomalies Dev,UMR1231, Dijon, France

[4] CHU Dijon Bourgogne, Ctr Reference Malad Rares Peau & Muqueuses Origine, FHU TRANSLAD, Dijon, France

[5] CHU Dijon Bourgogne, Inst GIMI, Dijon, France

[6] Univ Franche Comte, CHU Besancon, Oncobiol Genet Bioinformat, FHU TRANSLAD, Besancon, France

[7] Inst GIMI, Besancon, France

来源：

INTERNATIONAL JOURNAL OF DERMATOLOGY | 2025年 / 64卷 / 09期

关键词：

RASA1; capillary malformation; arteriovenous malformation; postzygotic variants; mosaicism;

D O I：

10.1111/ijd.17642

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：1667 / 1669

页数：3

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