Cantu syndrome: A longitudinal review of vascular findings in three individuals-Reference-Cited by-同舟云学术

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Cantu syndrome: A longitudinal review of vascular findings in three individuals

Published:2020-02-17 Issue:5 Volume:182 Page:1243-1248
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Parrott Ashley¹^ORCID,Lombardo Rachel²,Brown Nicole¹,Tretter Justin T.¹,Riley Laura¹,Weaver Kathryn Nicole¹³

Affiliation:

1. Division of Human Genetics, Cincinnati Children's Hospital Medical Center Cincinnati Ohio

2. Department of Medical GeneticsUT Southwestern Medical Center Dallas Texas

3. Division of Human GeneticsCincinnati Children's Hospital Medical Center Cincinnati Ohio

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61521

Reference22 articles.

1. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

2. A distinct osteochondrodysplasia with hypertrichosis?Individualization of a probable autosomal recessive entity

3. Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype

4. Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene

5. Differential mechanisms of Cantú syndrome–associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations;Function;2024

2. Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature;BMC Pediatrics;2023-12-19

3. Factors influencing pulmonary arterial pressure in three related patients with Cantú syndrome: glyburide may provide precision care;Rare Disease and Orphan Drugs Journal;2023-09-28

4. Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations;2023-07-01

5. Extending the spectrum in aortopathy: stenosis to aneurysm;Current Opinion in Genetics & Development;2022-10

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