Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome-Reference-Cited by-同舟云学术

Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Published:2016-01 Issue:1 Volume:32 Page:135.e1-135.e7
ISSN:0828-282X
Container-title:Canadian Journal of Cardiology
language:en
Short-container-title:Canadian Journal of Cardiology

Author:

Wünnemann Florian,Kokta Victor,Leclerc Séverine,Thibeault Maryse,McCuaig Catherine,Hatami Afshin,Stheneur Chantal,Grenier Jean-Christophe^ORCID,Awadalla Philip,Mitchell Grant A.,Andelfinger Gregor,Preuss Christoph

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference35 articles.

1. Vascular development and disorders: molecular analysis and pathogenic insights;Carmeliet;Kidney Int,1998

2. Genetic causes of vascular malformations;Brouillard;Hum Mol Genet,2007

3. From germline towards somatic mutations in the pathophysiology of vascular anomalies;Limaye;Hum Mol Genet,2009

4. Hereditary deformities in man due to arrested development;Adams;J Hered,1945

5. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia;Irrthum;Am J Hum Genet,2003

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