The earliest depictions of a PIK3CA-Related Overgrowth Spectrum disorder: 17th-18th century prints of women with severe limb overgrowth

被引：2

作者：

Heyne, Thomas F. ^{[1
,2
]}

Neri, Giovanni ^{[3
]}

Lin, Angela E. ^{[4
]}

机构：

[1] Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA

[2] Massachusetts Gen Hosp, Dept Pediat, Boston, MA 02114 USA

[3] Catholic Univ, Sch Med, Inst Genom Med, Rome, Italy

[4] MassGen Hosp Children, Genet Unit, Boston, MA USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2021年 / 187卷 / 02期

关键词：

artwork; genetics; PIK3CA; PROS; woodcut;

D O I：

10.1002/ajmg.c.31892

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report two prints (a woodcut from the 17th century and an engraving from the 18th century) that likely show individuals with PIK3CA-Related Overgrowth Spectrum (PROS). These prints are likely the earliest known depictions of this complex condition.

引用

页码：168 / 172

页数：5

共 20 条

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