A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings-Reference-Cited by-同舟云学术

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A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings

Published:2010-09 Issue:4 Volume:31 Page:193-195
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Barry Gerard P.,Ny Betina Mucha-Le,Zackai Elaine H.,Grunwald Lili,Forbes Brian J.

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.3109/13816810.2010.505225

Reference10 articles.

1. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis

2. Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation inFGFR2

3. Atypical Iris Colobomata and Pfeiffer Syndrome

4. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

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1. The Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome;Journal of Craniofacial Surgery;2023-07-21

2. Ophthalmic Complications of Craniosynostosis and the Impact of Endoscopic Repair;Endoscopic Craniosynostosis Surgery;2022

3. Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency;Clinical Case Reports;2021-10

4. Corectopia grading: A novel classification system;Seminars in Ophthalmology;2021-05-29

5. Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant;Child's Nervous System;2021-01-06

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