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Phenotype Presentation of Hypophosphatemic Rickets in Adults

✍ Scribed by Signe S. Beck-Nielsen; Klaus Brusgaard; Lars M. Rasmussen; Kim Brixen; Bendt Brock-Jacobsen; Mette R. Poulsen; Peter Vestergaard; Stuart H. Ralston; Omar M. E. Albagha; Sven Poulsen; Dorte Haubek; Hans Gjørup; Hanne Hintze; Mette G. Andersen; Lene Heickendorff; Jacob Hjelmborg; Jeppe Gram


Book ID
105913859
Publisher
Springer
Year
2010
Tongue
English
Weight
307 KB
Volume
87
Category
Article
ISSN
1432-0827

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Identification of fifteen novel PHEX gen
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We have carried out a mutation screening of the PHEX gene in Finnish patients with hypophosphatemia. A total of 100% (5/5) of the familial HYP patients (X-linked hypophosphatemia) and 93% (14/15) of the sporadic cases were found to carry a mutation in the PHEX gene. We identified 18 mutations, of wh