Article
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Molecular genetics and metabolism - 1 Mar 2021
Sperelakis-Beedham Brian, Taillandier Agnès, Domingues Christelle, Guberto Mihelaiti, Colin Estelle, Porquet-Bordes Valérie, Rothenbuhler Anya, Salles Jean-Pierre, Wenkert Deborah, Zankl Andreas, Muti Christine, Bacrot Séverine, Simon-Bouy Brigitte, Mornet Etienne
Abstract excerpt
Hypophosphatasia (HPP) is a rare inherited disease affecting bone and dental mineralization due to loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase (TNSALP). Prenatal benign HPP (PB HPP) is a rare form of HPP characterized by in utero skeletal manifestations that progressively improve during pregnancy but often still leave symptoms after birth. Because the prenatal...
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