Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management

Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represe...

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Bibliographic Details
Main Authors: Nipith Charoenngam, Aryan Nasr, Arash Shirvani, Michael F. Holick
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Genes
Subjects:
metabolic bone disease
sclerosing disorders
osteopetrosis
hypophosphatemic rickets
vitamin D-dependent rickets
hypophosphatasia
Online Access:https://www.mdpi.com/2073-4425/13/10/1880

Internet

https://www.mdpi.com/2073-4425/13/10/1880

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