Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation-Reference-Cited by-同舟云学术

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Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation

Published:2008-07 Issue:3 Volume:17 Page:223-224
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Freeman Lucinda,Elakis George,Watson Geoff,Mullan Glenda L.,Taylor Peter J.,Anderson Peter,Ogle Robert,Buckley Michael F.,Roscioli Tony

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference3 articles.

1. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis;Kan;Am J Hum Genet,2002

2. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse;Wang;Development,2005

3. Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome;Zankl;Am J Med Genet A,2004

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. The Evaluation, Correction, and Prevention of Pathologic Facial Development Secondary to Craniosynostosis;Endoscopic Craniosynostosis Surgery;2022

2. Pfeiffer syndrome – a case report;Pediatria i Medycyna Rodzinna;2021-12-31

3. Nasopharyngeal airway and subcranial space analysis in Pfeiffer syndrome;British Journal of Oral and Maxillofacial Surgery;2021-06

4. Tracheal cartilaginous sleeves in children with syndromic craniosynostosis;Genetics in Medicine;2017-01

5. Pfeiffer Syndrome;Diagnostic Imaging: Obstetrics;2016

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