000 01391 a2200409 4500
005 20250518090547.0
264 0 _c20210406
008 202104s 0 0 eng d
022 _a1720-8386
024 7 _a10.1007/s40618-020-01203-x
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMahjoubi, F
245 0 0 _aHyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
_h[electronic resource]
260 _bJournal of endocrinological investigation
_cAug 2020
300 _a1125-1130 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAdult
650 0 4 _aCalcinosis
_xetiology
650 0 4 _aExons
650 0 4 _aFemale
650 0 4 _aFibroblast Growth Factor-23
650 0 4 _aHumans
650 0 4 _aHyperostosis, Cortical, Congenital
_xetiology
650 0 4 _aHyperphosphatemia
_xetiology
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aN-Acetylgalactosaminyltransferases
_xgenetics
650 0 4 _aPedigree
650 0 4 _aPrognosis
650 0 4 _aPolypeptide N-acetylgalactosaminyltransferase
700 1 _aGhadir, M
700 1 _aSamanian, S
700 1 _aHeydari, I
700 1 _aHonardoost, M
773 0 _tJournal of endocrinological investigation
_gvol. 43
_gno. 8
_gp. 1125-1130
856 4 0 _uhttps://doi.org/10.1007/s40618-020-01203-x
_zAvailable from publisher's website
999 _c30699272
_d30699272