Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation-Reference-Cited by-同舟云学术

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Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation

Published:2017-03-23 Issue:5 Volume:173 Page:1342-1347
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Pierpont Mary Ella¹²³^ORCID,Richards Mary¹,Engel W. Keith²³,Mendelsohn Nancy J.¹⁴,Summers C. Gail¹²

Affiliation:

1. Department of PediatricsUniversity of MinnesotaMinneapolisMinnesota

2. Department of Ophthalmology and Visual NeurosciencesUniversity of MinnesotaMinneapolisMinnesota

3. Children's Hospitals and Clinics of MinnesotaMinneapolisMinnesota

4. Genomic MedicineChildren's Hospitals and Clinics of MinnesotaMinneapolisMinnesota

Funder

Department of Ophthalmology and Visual Neurosciences

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38110

Reference43 articles.

1. Germline mutations in HRAS proto-oncogene cause Costello syndrome

2. Two new cases with costello syndrome

3. Costello syndrome: Update on the original cases and commentary

4. Costello syndrome: natural history and differential diagnosis of cutis laxa.

5. Correspondence

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. Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery;Human Genetics;2023-05-16

2. Multidisciplinary Management of Costello Syndrome: Current Perspectives;Journal of Multidisciplinary Healthcare;2022-06

3. Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development;Ophthalmic Genetics;2021-10-06

4. COSTELLO SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

5. Costello syndrome: Clinical phenotype, genotype, and management guidelines;American Journal of Medical Genetics Part A;2019-06-20

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