TY  - RPRT
TI  - Seventeen-year follow-up of hypophosphatasia diagnosed in middle-aged siblings harboring a novel intronic and a rare missense ALPL gene mutation.
AU  - Francesco G Conti
AU  - Steven Mumm
AU  - Giovanna Gentile
AU  - Luana Lionetto
AU  - Giuseppe Argento
AU  - Morena Pisarro
AU  - Giuseppe Pugliese
AU  - Maria Luisa Brandi
AU  - Michael P Whyte
PY  - 2026
DO  - 10.1016/j.bone.2026.118034
UR  - https://pubmed.ncbi.nlm.nih.gov/42520950/
ID  - 42520950
ER  -