LZTR1 -Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features-Reference-Cited by-同舟云学术

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LZTR1 -Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features

Published:2020-04 Issue:2 Volume:13 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Jenkins Janda¹²,Barnes Aliessa¹²,Birnbaum Brian¹²,Papagiannis John¹²,Thiffault Isabelle¹³⁴,Saunders Carol J.¹³⁴^ORCID

Affiliation:

1. Department of Pediatrics (J.J., A.B., B.B., J.P., I.T., C.J.S.), Children’s Mercy—Kansas City

2. School of Medicine (J.J., A.B., B.B., J.P.), University of Missouri-Kansas City, Kansas City, MO.

3. Center for Pediatric Genomic Medicine (I.T., C.J.S.), Children’s Mercy—Kansas City

4. Department of Pathology and Laboratory Medicine (I.T., C.J.S.), Children’s Mercy—Kansas City

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Link

https://www.ahajournals.org/doi/pdf/10.1161/CIRCGEN.119.002690

Reference5 articles.

1. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

2. Rare variants inSOS2andLZTR1are associated with Noonan syndrome

3. Expanding the mutational spectrum of LZTR1 in schwannomatosis

4. Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

5. RAF1 mutations in childhood-onset dilated cardiomyopathy

Cited by 6 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. Biallelic LZTR1 variants in a 49‐year‐old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults;American Journal of Medical Genetics Part A;2023-12-22

2. Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities;Prenatal Diagnosis;2023-11-07

3. A rare case of Noonan syndrome associated with biallelic variants in the LZTR1;L.O. Badalyan Neurological Journal;2023-10-13

4. Abnormalities of pubertal development and gonadal function in Noonan syndrome;Frontiers in Endocrinology;2023-07-28

5. Automated Facial Recognition for Noonan Syndrome Using Novel Deep Convolutional Neural Network With Additive Angular Margin Loss;Frontiers in Genetics;2021-06-07

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