Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature-Reference-Cited by-同舟云学术

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

Published:2020-03-10 Issue:5 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Chesneau Bertrand¹²^ORCID,Edouard Thomas²,Dulac Yves²,Colineaux Hélène³⁴,Langeois Maud¹²,Hanna Nadine⁵,Boileau Catherine⁵,Arnaud Pauline⁵^ORCID,Chassaing Nicolas¹,Julia Sophie¹,Jondeau Guillaume⁵,Plancke Aurélie⁶,Khau Van Kien Philippe⁶,Plaisancié Julie¹²

Affiliation:

1. Service de génétique médicale Hôpital Purpan CHU de Toulouse Toulouse France

2. Centre de Référence du syndrome de Marfan et des syndromes apparentés Hôpital des Enfants CHU de Toulouse Toulouse France

3. Département d'épidémiologie, d'économie de la santé et de santé publique CHU de Toulouse Toulouse France

4. LEASP UMR1027 INSERM Université Toulouse III Toulouse France

5. Centre de Référence pour le syndrome de Marfan et apparentés AP‐HP Hôpital Bichat Faculté Paris Diderot LVTS INSERM U1148 Paris France

6. UF de Génétique Médicale et Cytogénétique Centre Hospitalier Régional Universitaire de Nîmes Nîmes France

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1132

Reference29 articles.

1. Arno G. Aragon‐Martin J. A. Song O. Kamali N. Saggar‐Malik A. K. Jahangiri M. &Child A.(2012).Mutations in SMAD3 in a British cohort of thoracic aortic aneurysm and dissection (TAAD) patients.https://doi.org/10.13140/2.1.3820.7683

2. Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation

3. Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

4. Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene

5. Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

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