Noonan syndrome and RASopathies: Clinical features, diagnosis and management-Reference-Cited by-同舟云学术

Noonan syndrome and RASopathies: Clinical features, diagnosis and management

Published:2019-06-30 Issue:1 Volume:16 Page:1-9
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Lee Beom Hee¹²,Yoo Han-Wook¹²^ORCID

Affiliation:

1. Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

2. Genome Research Center for Birth Defects and Genetic Disorders, Medical Genetics Center, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

Funder

National Research Foundation of Korea

Ministry of Education, Science and Technology

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2019/016/JGM016-01-01.pdf

Reference45 articles.

1. Clinical and molecular studies in a large Dutch family with Noonan syndrome

2. Noonan syndrome

3. Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

4. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome

5. PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

Cited by 8 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. Macrocephaly and Finger Changes: A Narrative Review;International Journal of Molecular Sciences;2024-05-20

2. Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma–Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances;Genes;2023-12-03

3. Comprehensive Clinical and Neuroimaging Review of Posterior Fossa Hemorrhage in Preterm and Term Newborns;Journal of Pediatric Neurology;2023-07-28

4. RASopathies and cardiac manifestations;Frontiers in Cardiovascular Medicine;2023-07-17

5. RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations;The Application of Clinical Genetics;2022-10