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Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
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Disease definition
A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.
ORPHA:306661
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Disease review articles
Clinical genetics review
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Guidance for genetic testing
: produced/endorsed by ERN(s) : produced/endorsed by FSMR(s)
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