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

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 incident...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834184/
https://www.ncbi.nlm.nih.gov/pubmed/36444396
http://dx.doi.org/10.1002/mgg3.2056

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834184/
https://www.ncbi.nlm.nih.gov/pubmed/36444396
http://dx.doi.org/10.1002/mgg3.2056

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