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Review
. 2020 Mar;36(3):235-242.
doi: 10.1051/medsci/2020023. Epub 2020 Mar 31.

[Segmental overgrowth syndromes and therapeutic strategies]

[Article in French]
Quitterie Venot  1 , Guillaume Canaud  2
Affiliations
Free article
Review

[Segmental overgrowth syndromes and therapeutic strategies]

[Article in French]
Quitterie Venot et al. Med Sci (Paris). 2020 Mar.
Free article

Abstract
in English, French

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.

Title: Les syndromes de surcroissance segmentaire et les stratégies thérapeutiques.

Abstract: Les syndromes de surcroissance sont un groupe de pathologies caractérisées par une croissance excessive généralisée ou segmentaire. Les syndromes de surcroissance segmentaires sont principalement dus à des anomalies génétiques apparaissant durant l’embryogenèse et aboutissant à un mosaïcisme. Le nombre de patients atteints d’un syndrome de surcroissance avec une mutation identifiée a fortement augmenté grâce à des avancées récentes en génétique moléculaire, en utilisant le séquençage de nouvelle génération (NGS). Cette revue détaille les différents syndromes de surcroissance segmentaire ainsi que les voies moléculaires impliquées et les options thérapeutiques envisageables.

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