Variable expressivity of pfeiffer syndrome in a family withFGFR1p.Pro252Arg mutation-Reference-Cited by-同舟云学术

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Variable expressivity of pfeiffer syndrome in a family withFGFR1p.Pro252Arg mutation

Published:2014-09-23 Issue:12 Volume:164 Page:3176-3179
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bessenyei Beáta¹,Tihanyi Mariann²,Hartwig Marianna²,Szakszon Katalin³,Oláh Éva³

Affiliation:

1. Department of Laboratory Medicine; Faculty of Medicine; University of Debrecen; Debrecen Hungary

2. Genetic Laboratory; Hospital of Zala County; Zalaegerszeg Hungary

3. Department of Pediatrics; Faculty of Medicine; University of Debrecen; Debrecen Hungary

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation;Baroni;J Cell Physiol,2005

2. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis;Cohen;Am J Med Genet,1993

3. Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome;Ettinger;J Craniofac Surg,2013

4. FGFR1 Pfeiffer syndrome without craniosynostosis: An additional case report;Hackett;Clin Dysmorphol,2006

5. The fibroblast growth factor receptor 2p. Ala172Phe Mutation in Pfeiffer syndrome - History repeating itself;Jay;Am J Med Genet,2013

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1. Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care;The Cleft Palate-Craniofacial Journal;2021-07-09

2. Cephalocranial Disproportionate Fossa Volume and Normal Skull Base Angle in Pfeiffer Syndrome;Journal of Craniofacial Surgery;2021-03

3. Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome;Journal of Craniofacial Surgery;2020-10-16

4. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 associated with congenital hypoplasia of the tongue and review of the literature;Taiwanese Journal of Obstetrics and Gynecology;2020-03

5. Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis;Prenatal Diagnosis;2018-02-28

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