(Q45345392)

13 December 2017

title

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification (English)

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13 December 2017

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5

Bernd Wollnik

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13 December 2017

Ilana Chefetz

1

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13 December 2017

Raoul Heller

2

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13 December 2017

Assimina Galli-Tsinopoulou

3

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13 December 2017

Gabriele Richard

4

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13 December 2017

Margarita Indelman

6

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13 December 2017

Friederike Koerber

7

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13 December 2017

Orit Topaz

8

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13 December 2017

Reuven Bergman

9

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13 December 2017

Eli Sprecher

10

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13 December 2017

Eckhard Schoenau

11

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13 December 2017

publication date

15 November 2005

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13 December 2017

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13 December 2017

volume

118

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13 December 2017

issue

2

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13 December 2017

page(s)

261-266

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https://scigraph.springernature.com/pub.10.1007/s00439-005-0026-8

13 December 2017

exact match

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cites work

Tumoral Calcinosis--an Unrecognized Disease

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-0026-8

A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis

21 January 2018

1 reference

12 December 2020

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

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12 December 2020

A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular pathogenesis of hypophosphatemic rickets

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12 December 2020

Proposal for a pathogenesis-based classification of tumoral calcinosis

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12 December 2020

Bone densities and bone size at the distal radius in healthy children and adolescents: a study using peripheral quantitative computed tomography

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12 December 2020

A case of familial tumoral calcinosis in a neonate and review of the literature.

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12 December 2020

The phosphatonin pathway: new insights in phosphate homeostasis

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12 December 2020

Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis

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12 December 2020

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

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12 December 2020

Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism

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12 December 2020

All in the family: the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases

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12 December 2020

Nomogram for derivation of renal threshold phosphate concentration

1 reference

12 December 2020

Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations

1 reference

12 December 2020

Tumoral calcinosis revisited--common and uncommon features. Report of ten cases and review

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12 December 2020

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders

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12 December 2020

Cutaneous deposition diseases. Part II

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12 December 2020

Fibroblast growth factor (FGF)-23 inhibits renal phosphate reabsorption by activation of the mitogen-activated protein kinase pathway

1 reference

12 December 2020

10.1007/S00439-005-0026-8

Identifiers

DOI

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Dimensions Publication ID

13 December 2017

1036581188

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