Unraveling the complexity of skeletal dysplasias in the national health system

IntroductionSkeletal dysplasia (SD) is a large and heterogeneous group of rare genetic disorders that affects bone and cartilage growth. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. However, the diagnostics is challenging due to clinical and genetic heteroge...

Full description

Saved in:
Bibliographic Details
Main Authors: Dorra Najjar, Aleš Maver, Ana Peterlin, Helena Jaklič, Borut Peterlin
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Endocrinology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1523737/full
Tags: Add Tag
No Tags, Be the first to tag this record!