Familial tumoral calcinosis

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Topaz O et al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

Frishberg Y et al. (2005) Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.

Ichikawa S et al. (2005) A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.

Specktor P et al. (2006) Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.

Ichikawa S et al. (2006) Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.

Ichikawa S et al. (2010) Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

Ichikawa S et al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Benet-Pagès A et al. (2005) An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Chefetz I et al. (2005) A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.

Abbud Y et al. (1979) Scintiscans of two siblings with tumoral calcinosis.

Pursley TV et al. (1979) Cutaneous manifestations of tumoral calcinosis.

None (1978) Tumoral calcinosis. A clinical and pathological study of eleven unreported cases in Turkey.

Wilson MP et al. (1989) Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis.

Witcher SL et al. (1989) Tumoral calcinosis with unusual dental radiographic findings.

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Talab YA et al. () Hyperostosis with hyperphosphatemia: a case report and review of the literature.

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