Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant-Reference-Cited by-同舟云学术

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Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant

Published:2021-07-11 Issue:6 Volume:61 Page:226-230
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenit Anom

Author:

Yamada Mamiko¹^ORCID,Funato Michinori²,Kondo Goro³,Suzuki Hisato¹^ORCID,Uehara Tomoko¹⁴,Takenouchi Toshiki⁵,Sakamoto Yoshiaki⁶,Kosaki Kenjiro¹^ORCID

Affiliation:

1. Center for Medical Genetics, Keio University School of Medicine Tokyo Japan

2. Department of Pediatrics National Hospital Organization Nagara Medical Center Gifu Japan

3. Department of Neurosurgery National Hospital Organization Nagara Medical Center Gifu Japan

4. Department of Pediatrics Central Hospital, Aichi Developmental Disability Center Aichi Japan

5. Department of Pediatrics Keio University School of Medicine Tokyo Japan

6. Department of Plastic and Reconstructive Surgery Keio University School of Medicine Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12435

Reference35 articles.

1. Signaling mechanisms implicated in cranial sutures pathophysiology: Craniosynostosis

2. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

3. Genetics of Nonsyndromic Craniosynostosis

4. Noonan syndrome

5. Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations

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. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis;European Journal of Human Genetics;2024-06-01

2. Noonan syndrome‐like phenotype associated with an ERF frameshift variant;American Journal of Medical Genetics Part A;2024-05-14

3. Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene;Journal of Craniofacial Surgery;2022-06-28

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