FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
about
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanismImpact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.Spatial and Temporal Analysis of Active ERK in the C. elegans Germline.Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature.Genetic Homozygosity and Phenotypic Variability in Craniosynostotic Rabbits.Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome
P2860
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P2860
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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name
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
@en
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
@nl
type
label
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
@en
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
@nl
prefLabel
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
@en
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
@nl
P1476
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
@en
P2093
Anna Hackett
Lindsay Rowe
P304
P356
10.1097/01.MCD.0000220608.40155.D4
P577
2006-10-01T00:00:00Z