Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations-Reference-Cited by-同舟云学术

Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations

Published:2018-01-15 Issue:2 Volume:176 Page:337-350
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Chen Ming Hui¹²³,Choudhury Sangita²³,Hirata Mami⁴,Khalsa Siri¹,Chang Bernard³⁵,Walsh Christopher A.²³^ORCID

Affiliation:

1. Department of CardiologyBoston Children's HospitalBostonMassachusetts

2. Division of Genetics and GenomicsManton Center for Orphan Disease Research, Department of Pediatrics and Howard Hughes Medical InstituteBoston Children's HospitalBostonMassachusetts

3. Harvard Medical SchoolBostonMassachusetts

4. Tokyo Women's Medical UniversityTokyoJapan

5. Department of NeurologyBeth Israel Deaconess Medical CenterBostonMassachusetts

Funder

Howard Hughes Medical Institute

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38580

Reference53 articles.

1. The use of Z-scores in paediatric cardiology

2. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders†

3. Combined cardiological and neurological abnormalities due to filamin A gene mutation

4. Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

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