Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis-Hyperphosphatemia Syndrome With a Possible Founder Effect.
Sedghi M et al.
Human Mutation, 2025
Type 1 Hyperphosphatemic Familial Tumoral Calcinosis Associated With a Homozygous Variant Mutation in the GALNT3 Gene.
Alghubishi SA et al.
Cureus, 2024
A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.
Wu A et al.
Molecular Genetics and Metabolism Reports, 2024
Three Siblings With a Rare Familial Hyperphosphatemia Syndrome: A Case Series.
Sowaity ZA et al.
Cureus, 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
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Kagan M et al.
Frontiers in Genetics, 2022
Bone Involvement in Hyperphosphatemic Familial Tumoral Calcinosis: A New Phenotypic Presentation.
Freedman JD et al.
Rambam Maimonides Medical Journal, 2021
Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
Mahjoubi F et al.
Journal of Endocrinological Investigation, 2020
Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis.
Albaramki J et al.
The Turkish Journal of Pediatrics, 2019
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
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.
Falik-Zaccai TC et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.
Joseph L et al.
Skeletal Radiology, 2010
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome.
Gok F et al.
Acta Orthopaedica, 2009
Two novel GALNT3 mutations in familial tumoral calcinosis.
Garringer HJ et al.
American Journal of Medical Genetics. Part A, 2007
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.
Ichikawa S et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis.
Topaz O et al.
The American Journal of Dermatopathology, 2005
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.
Frishberg Y et al.
Journal of Molecular Medicine (berlin, Germany), 2005
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