Associated Papers
A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.
Wu A et al.
Molecular Genetics and Metabolism Reports, 2024
Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.
Hassan N et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
Mahjoubi F et al.
Journal of Endocrinological Investigation, 2020
Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.
Sun L et al.
Bone Research, 2016
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
Esapa CT et al.
Plos One, 2012
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).
Farrow EG et al.
Best Practice & Research. Clinical Rheumatology, 2011
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
Ichikawa S et al.
American Journal of Medical Genetics. Part A, 2010
Two novel GALNT3 mutations in familial tumoral calcinosis.
Garringer HJ et al.
American Journal of Medical Genetics. Part A, 2007
Mutations in SEC63 cause autosomal dominant polycystic liver disease.
Davila S et al.
Nature Genetics, 2004
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
Topaz O et al.
Nature Genetics, 2004
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