Grange syndrome due to homozygous YY1AP1 missense rare variants-Reference-Cited by-同舟云学术

Grange syndrome due to homozygous YY1AP1 missense rare variants

Published:2019-10-21 Issue:12 Volume:179 Page:2500-2505
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ciuffetelli Alamo Isabella V.¹,Kwartler Callie S.¹^ORCID,Regalado Ellen R.¹,Afifi Rana O.²,Parkash Sandhya³⁴,Rideout Andrea³,Guo Dong‐chuan¹,Milewicz Dianna M.¹

Affiliation:

1. Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School University of Texas Health Science Center at Houston Houstan Texas

2. Cardiothoracic and Vascular Surgery Department McGovern Medical School at the University of Texas Health Science Center at Houston Houstan Texas

3. Department of Pediatrics Dalhousie University Halifax Nova Scotia Canada

4. Maritime Medical Genetic Service IWK Health Service Halifax Nova Scotia Canada

Funder

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61379

Reference9 articles.

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2. The Chronic Vascular and Haemodynamic Response after Permanent Bilateral Common Carotid Occlusion in Newborn and Adult Rats

3. Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities

4. Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

5. Twisted Blood Vessels: Symptoms, Etiology and Biomechanical Mechanisms

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2. Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome;American Journal of Medical Genetics Part A;2023-09-12

3. The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1;Molecular Syndromology;2023

4. The complex genetic basis of fibromuscular dysplasia, a systemic arteriopathy associated with multiple forms of cardiovascular disease;Clinical Science;2022-08

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