ey0021.5-3 | Advances in Clinical Practice | ESPEYB21
Farman Mariam R
, Rehder Catherine
, Malli Theodora
, Rockman-Greenberg Cheryl
, Dahir Kathryn
, Angel Martos-Moreno Gabriel
, Linglart Agnes
, al. et
In brief: This article describes the functionalities of the Global ALPL gene variant classification project, which aims to reclassify variants of uncertain significance (VUS) in the ALPL gene and to continuously assess and update genetic, phenotypic, and functional variant information in hypophosphatasia.Commentary: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the alkaline phosphatase ( A...