Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation-Reference-Cited by-同舟云学术

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Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

Published:2005 Issue:3 Volume:138A Page:278-281
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

McCann Emma,Kaye Stephen B.,Newman William,Norbury Gail,Black Graeme C.M.,Ellis Ian H.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene

2. Autosomal dominant iris hypoplasia is caused by a mutation in the rieger syndrome (rieg/pitx2) gene

3. A Crouzon Syndrome Synonymous Mutation Activates a 5′ Splice Site within the IIIC Exon of the FGFR2 Gene

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. Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening;Heliyon;2023-07

2. Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype;Genes;2022-06-27

3. Crouzon syndrome and the eye: An overview;Indian Journal of Ophthalmology;2022

4. Glaucoma With Crouzon Syndrome;Journal of Glaucoma;2018-06

5. Understanding craniosynostosis as a growth disorder;WIREs Developmental Biology;2016-03-22

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