Clinical variability of familial tumoral calcinosis caused by novelGALNT3mutations-Reference-Cited by-同舟云学术

Clinical variability of familial tumoral calcinosis caused by novelGALNT3mutations

Published:2010-04 Issue:4 Volume:152A Page:896-903
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ichikawa Shoji,Baujat Geneviève,Seyahi Aksel,Garoufali Anastasia G.,Imel Erik A.,Padgett Leah R.,Austin Anthony M.,Sorenson Andrea H.,Pejin Zagorka,Topouchian Vicken,Quartier Pierre,Cormier-Daire Valerie,Dechaux Michele,Malandrinou Fotini Ch.,Singhellakis Panagiotis N.,Le Merrer Martine,Econs Michael J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference34 articles.

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2. Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis;Barbieri;J Hum Genet,2007

3. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia;Benet-Pagès;Hum Mol Genet,2005

4. Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis;Bergwitz;J Clin Endocrinol Metab,2009

5. Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family;Campagnoli;J Clin Pathol,2006

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5. Canakinumab in addition to phosphate-binding and phosphaturia-inducing therapy were effective in achieving remission in a child with a large familial calcinotic tumour;Bone Reports;2023-12