scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1044604394 |
P356 | DOI | 10.1038/BONERES.2016.38 |
P932 | PMC publication ID | 5100662 |
P698 | PubMed publication ID | 27867679 |
P2093 | author name string | Lin Zhao | |
Min Li | |||
Minjia Zhang | |||
Jianmin Liu | |||
Peipei Zhang | |||
Tingting Liu | |||
Hongyan Zhao | |||
Lei Ye | |||
Bei Tao | |||
Lianjun Du | |||
Lihao Sun | |||
Xiaoyi Ding | |||
P2860 | cites work | Two novel GALNT3 mutations in familial tumoral calcinosis | Q81245859 |
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis | Q81353302 | ||
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis | Q83469034 | ||
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation | Q24321247 | ||
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho) | Q26827280 | ||
A method and server for predicting damaging missense mutations | Q27860835 | ||
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis | Q28260847 | ||
Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene | Q28260860 | ||
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis | Q28292466 | ||
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm | Q29547194 | ||
MutationTaster evaluates disease-causing potential of sequence alterations | Q29615749 | ||
Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. | Q33264714 | ||
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature | Q34273172 | ||
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification | Q35203191 | ||
A case of familial tumoral calcinosis in a neonate and review of the literature. | Q35876095 | ||
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis | Q35925637 | ||
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). | Q36269009 | ||
Tumoral calcinosis: pearls, polemics, and alternative possibilities | Q36479739 | ||
Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease | Q36832542 | ||
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features | Q37216979 | ||
Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis | Q37417445 | ||
Proposal for a pathogenesis-based classification of tumoral calcinosis | Q41095263 | ||
Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome | Q41646281 | ||
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. | Q42254986 | ||
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis | Q45018105 | ||
Successful treatment of hyperphosphatemic tumoral calcinosis with long-term acetazolamide. | Q54176812 | ||
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. | Q54458912 | ||
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations | Q61831294 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P921 | main subject | hyperphosphatemic familial tumoral calcinosis | Q32146709 |
P304 | page(s) | 16038 | |
P577 | publication date | 2016-11-08 | |
P1433 | published in | Bone research | Q26842189 |
P1476 | title | Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis | |
P478 | volume | 4 |
Q53833396 | Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation. |
Q90174081 | Clinical and genetic analysis of idiopathic normophosphatemic tumoral calcinosis in 19 patients |
Q89161363 | Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature |
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