Open AccessSUN-528 The Clinical Utility of Gene Sequencing in Hypophosphatasia: Lessons from Patients with Two Rare Variants
Author(s) -
Daniel R. Tilden,
Andrea H. Ramirez,
Jonathan H. Sheehan,
Derek K. Smith,
John H. Newman,
Kathryn Dahir
Publication year - 2019
Publication title -
journal of the endocrine society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.046
H-Index - 20
ISSN - 2472-1972
DOI - 10.1210/js.2019-sun-528
Subject(s) - hypophosphatasia , penetrance , asymptomatic , medicine , disease , elevated alkaline phosphatase , genotype phenotype distinction , genotype , medical record , gene , phenotype , genetics , alkaline phosphatase , pediatrics , biology , biochemistry , enzyme