Severe connective tissue laxity including aortic dilatation in Sotos syndrome

Author:

Hood Rebecca L.12,McGillivray George3,Hunter Matthew F.45,Roberston Stephen P.6,Bulman Dennis E.27,Boycott Kym M.278,Stark Zornitza3,

Affiliation:

1. Department of Biochemistry; Microbiology and Immunology; University of Ottawa; Ottawa Canada

2. Children's Hospital of Eastern Ontario Research Institute; University of Ottawa; Ottawa Canada

3. Victorian Clinical Genetics Services; Murdoch Children's Research Institute; Melbourne Australia

4. Monash Genetics; Monash Medical Centre; Melbourne Australia

5. Department of Paediatrics; Monash University; Melbourne Australia

6. Department of Women's and Children's Health; Dunedin School of Medicine; University of Otago; Dunedin New Zealand

7. Department of Pediatrics; University of Ottawa; Ottawa Canada

8. Department of Genetics; Children's Hospital of Eastern Ontario; Ottawa Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference9 articles.

1. [Sotos syndrome: A novel nonsense mutation in NSD1 gene, presenting with neonatal cutis laxa];Cortes-Saladelafont;An Pediatr (Barc),2011

2. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes;Douglas;Am J Hum Genet,2003

3. Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person;Fickie;Am J Med Genet A,2011

4. Haploinsufficiency of NSD1 causes Sotos syndrome;Kurotaki;Nat Genet,2002

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1. Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome;Journal of Medical Genetics;2024-07-02

2. Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome;Diagnostics;2024-03-11

3. Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‐Brown‐Rahman syndrome;American Journal of Medical Genetics Part A;2021-10-13

4. SOTOS SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

5. Aortic dilation in Sotos syndrome: An underestimated feature?;American Journal of Medical Genetics Part A;2020-04-14

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