Article
Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.
Molecular genetics & genomic medicine - 1 Jan 2023
Beck Natalie M, Sagaser Katelynn G, Lawson Cathleen S, Hertenstein Christine, Jachens Ashley, Forster Katherine R, Miller Kristen A, Jelin Angie C, Blakemore Karin J, Hoover-Fong Julie
Abstract excerpt
Hypophosphatasia (HPP) is an underrecognized, complex bone mineralization disorder with variable manifestations caused by one or two deleterious variants in the alkaline phosphatase (ALPL) gene. Expanded carrier screening (ECS), inclusive of ALPL, intends to inform reproductive risk but may incidentally reveal an HPP diagnosis with 50% familial risks. We sought to investigate at-risk individuals and develop a...
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