Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

Hypophosphatasia (HPP) is an inherited metabolic condition caused by pathogenic mutations in the ALPL gene. This leads to deficiency of tissue non-specific alkaline phosphatase (TNSALP), resulting in decreased mineralization of the bones and/or teeth and multi-systemic complications. Inheritance may...

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Detalles Bibliográficos
Autores principales: Huggins, Erin, Ong, Ricardo, Rockman-Greenberg, Cheryl, Flueckinger, Lauren Bailey, Dahir, Kathryn M., Kishnani, Priya S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578550/
https://www.ncbi.nlm.nih.gov/pubmed/33101980
http://dx.doi.org/10.1016/j.ymgmr.2020.100661

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578550/
https://www.ncbi.nlm.nih.gov/pubmed/33101980
http://dx.doi.org/10.1016/j.ymgmr.2020.100661

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