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Title:

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Document type:
Case Reports; Journal Article; Article
Author(s):
Benet-Pagès, A; Orlik, P; Strom, TM; Lorenz-Depiereux, B
Abstract:
Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels. Recently, mutations in the GALNT3 gene have been described to cause FTC. The FTC phenotype is regarded as the metabolic mirror image of hypophosphatemic conditions, where causal mutations are known in genes FGF23 or PHEX. We investigated an individual with FTC who was negative for GALNT3 mutations. Sequencing revealed a homozygous missense mutation in...     »
Journal title abbreviation:
Hum Mol Genet
Year:
2005
Journal volume:
14
Journal issue:
3
Pages contribution:
385-90
Language:
eng
Fulltext / DOI:
doi:10.1093/hmg/ddi034
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/15590700
Print-ISSN:
0964-6906
TUM Institution:
Institut für Humangenetik
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