Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature-Reference-Cited by-同舟云学术

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Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature

Published:2019-03-28 Issue:6 Volume:179 Page:1042-1046
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ritter Alyssa¹²^ORCID,Cuddapah Sanmati¹³,Degenhardt Karl²,Kasperski Stefanie⁴,Johnson Mark P.⁴,O'Connor Matthew J.²,Ahrens‐Nicklas Rebecca¹³

Affiliation:

1. Division of Human Genetics, Department of PediatricsThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

2. Divison of Cardiology, Department of PediatricsThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

3. Department of PediatricsPerelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania

4. Center for Fetal Diagnosis and TreatmentThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61123

Reference24 articles.

1. Clinical profile of restrictive cardiomyopathy.

2. Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children

3. Prenatal Ultrasound Abnormalities in a Patient with Generalized Neurofibromatosis Type 1

4. Neurofibromatosis type 1 (NF1)

5. Familial neurofibromatosis and hypertrophic cardiomyopathy.

Cited by 3 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. Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy;BMC Cardiovascular Disorders;2024-04-23

2. Familial evaluation reveals a distinct genetic cause in a large Spanish family with neurofibromatosis 1 and hypertrophic cardiomyopathy;Gene;2020-07

3. NF1 in Other Organs;Multidisciplinary Approach to Neurofibromatosis Type 1;2020

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