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

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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Bibliographic Details
Main Authors: Erin Huggins, Ricardo Ong, Cheryl Rockman-Greenberg, Lauren Bailey Flueckinger, Kathryn M. Dahir, Priya S. Kishnani
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Hypophosphatasia
Alkaline phosphatase
Family history
Genetic counseling
ALPL gene
Dominant inheritance
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920301075

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http://www.sciencedirect.com/science/article/pii/S2214426920301075

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