Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Fibroblast growth factor 9

The FGF9 gene encodes a glia-activating growth factor. Mutations cause autosomal dominant multiple synostoses syndrome 3.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Multiple synostoses syndrome 3
FGF9

References:

1.

Sun X et al. (2000) Conditional inactivation of Fgf4 reveals complexity of signalling during limb bud development.

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2.

Mariani FV et al. (2008) Genetic evidence that FGFs have an instructive role in limb proximal-distal patterning.

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3.

Wu XL et al. (2009) Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.

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4.

Barak H et al. (2012) FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

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5.

Miyamoto M et al. (1993) Molecular cloning of a novel cytokine cDNA encoding the ninth member of the fibroblast growth factor family, which has a unique secretion property.

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6.

Mattei MG et al. (1995) The human FGF9 gene maps to chromosomal region 13q11-q12.

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7.

Colvin JS et al. (2001) Male-to-female sex reversal in mice lacking fibroblast growth factor 9.

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8.

Katoh M et al. (2005) Comparative genomics on FGF20 orthologs.

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9.

Harada M et al. (2009) FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion.

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10.

NCBI article

NCBI 2254 external link
11.

OMIM.ORG article

Omim 600921 external link
12.

Orphanet article

Orphanet ID 201587 external link
13.

Wikipedia article

Wikipedia EN (FGF9) external link
Update: Aug. 14, 2020
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