Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening

Abstract 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...

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Principais autores:	Natalie M. Beck, Katelynn G. Sagaser, Cathleen S. Lawson, Christine Hertenstein, Ashley Jachens, Katherine R. Forster, Kristen A. Miller, Angie C. Jelin, Karin J. Blakemore, Julie Hoover‐Fong
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2023-01-01
Serija:	Molecular Genetics & Genomic Medicine
Teme:	ALPL carrier screening genetic testing hypophosphatasia incidental diagnosis
Online dostop:	https://doi.org/10.1002/mgg3.2056
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