Segmental overgrowth syndromes and therapeutic strategies

被引：4

作者：

Venot, Quitterie ^{[1
]}

Canaud, Guillaume ^{[1
,2
,3
]}

机构：

[1] INSERM, U1151, Inst Necker Enfants Malad, F-75015 Paris, France

[2] Hop Necker Enfants Malad, AP HP, Serv Hypercroissance Pathol, 149 Rue Sevres, F-75015 Paris, France

[3] Univ Paris, Paris, France

来源：

M S-MEDECINE SCIENCES | 2020年 / 36卷 / 03期

关键词：

PIK3CA(H1047R) MUTATION; VASCULAR ANOMALIES; CDK INHIBITOR; MOUSE MODEL; EXPRESSION; P57(KIP2); GERMLINE; MOSAICISM; PIK3CA; GROWTH;

D O I：

10.1051/medsci/2020023

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Overgrowth syndromes are a large group of rare disorders characterized by generalized or segmental excessive growth. Segmental overgrowth syndromes are mainly due to genetic anomalies appearing during the embryogenesis and leading to mosaicism. The numbers of patients with segmental overgrowth with an identified molecular defect has dramatically increased following the recent advances in molecular genetic using next-generation sequencing approaches. This review discusses various syndromes and pathways involved in segmental overgrowth syndromes and presents actual and future therapeutic strategies.

引用

页码：235 / 242

页数：8

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