Síndrome Pfeiffer tipo 2
Author:
Publisher
GRAPHIMEDIC SA DE CV
Subject
Pediatrics, Perinatology and Child Health
Reference14 articles.
1. Ko JM. Genetic syndromes associated with craniosynostosis. J Korean Neurosurg Soc. 2016; 59(3): 187-91. doi: 10.3340/jkns.2016.59.3.187.
2. Jay S, Wiberg A, Swan M, Lester T, Williams LJ, Taylor IB et al. The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself. Am J Med Genet A. 2013; 161A(5): 1158-1163. doi: 10.1002/ajmg.a.35842.
3. Machado RA, Ferreira SB, Martins L, Ribero MM, Martelli DR, Coletta RD et al. A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome. Am J Med Genet A. 2017; 173(10): 2838-2843. doi: 10.1002/ajmg.a.38389.
4. Amiji I, Kalezi ZE, Abdulshakoor A, Tarimo JF, Leiya R, Zuechner A et al. Pfeiffer syndrome type 2; a case report of cranio-orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania. Clin Case Rep. 2020; 8(9): 1613-1617. doi: 10.1002/ccr3.2959.
5. Ben Hamouda H, Tlili Y, Ghanmi S, Soua H, Jerbi S, Souissi MM et al. Pfeiffer syndrome type II discovered perinatally: report of an observation and review of the literature. Diagn Interv Imaging. 2012; 93(10): 785-789. doi: 10.1016/j.diii.2012.06.002.
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