Medical Knowledge Cockpit
pfeiffer syndrome
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External
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
Definition
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FGFR1
Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications
Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development
A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice
Fibroblast growth factor receptors, developmental corruption and malignant disease
Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications
FGF receptors: cancer biology and therapeutics
Fibroblast growth factor receptors, developmental corruption and malignant disease
FGFR2
Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR2)
Cancer Gene Census
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FGFR1
Somatic tumors
MPN, NHL, salivary adenoma
Tumor types germline
Cancer Syndrom
Translocation partner
BCR, FOP, ZMYM2, CNTRL, PLAG1
Name
fibroblast growth factor receptor 1
Chromosome banding
8p11.2-p11.1
Cancer molecular gen.
Dom
Mutation type
T
Other syndrome disease
Pfeiffer syndrome, Kallman syndrome