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A case of familial tumoral calcinosis/hyperostosis–hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features

C. E. Dumitrescu, Marilyn H Kelly, Azarmindokht Khosravi, Thomas C. Hart, Jaime S. Brahim, Kenneth E. White, Emily Farrow, Muriel H. Nathan, Mark D. Murphey, Michael T. Collins

Osteoporosis International · 2008 · 54 citations · 22 references

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22

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

Kenneth E. White, W. Evans, Jeffery L.H. O'Riordan et al. · Nature Genetics · 2000 · 1.5K citations

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Fibroblast Growth Factor 23 in Oncogenic Osteomalacia and X-Linked Hypophosphatemia

Kenneth B. Jonsson, R Zahradnik, Tobias E. Larsson et al. · New England Journal of Medicine · 2003 · 920 citations · Full text

, , +15

FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting

Mara Riminucci, Michael T. Collins, Neal S. Fedarko et al. · Journal of Clinical Investigation · 2003 · 646 citations · Full text

, , +17

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Orit Topaz, Daniel L. Shurman, Margarita Indelman et al. · Nature Genetics · 2004 · 595 citations · Full text

, , +11

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia

Anna Benet‐Pagès, Peter Orlik, Tim M. Strom et al. · Human Molecular Genetics · 2004 · 504 citations

, , +17