| Literature DB >> 32228842 |
Quitterie Venot1, Guillaume Canaud2.
Abstract
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.Entities:
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Year: 2020 PMID: 32228842 DOI: 10.1051/medsci/2020023
Source DB: PubMed Journal: Med Sci (Paris) ISSN: 0767-0974 Impact factor: 0.818