Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations (Q61831294)

Michael J Econs

17

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Pierre Quartier

Pierre Quartier

11

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Valérie Cormier-Daire

Valerie Cormier-Daire

12

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Shoji Ichikawa

1

Shoji Ichikawa

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Andrea H Sorenson

8

Andrea H Sorenson

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Leah R Padgett

6

Leah R Padgett

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author name string

Geneviève Baujat

2

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Aksel Seyahi

3

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Anastasia G Garoufali

4

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Anthony M Austin

7

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Zagorka Pejin

9

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Vicken Topouchian

10

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Michele Dechaux

13

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Fotini Ch Malandrinou

14

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Panagiotis N Singhellakis

15

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Martine Le Merrer

American Journal of Medical Genetics

16

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language of work or name

English

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publication date

April 2010

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published in

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volume

152A

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issue

4

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page(s)

896-903

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cites work

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Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed.

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Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis

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

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