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Chiari I Malformations and the Heritable Disorders of Connective Tissue.
- Source :
-
Neurosurgery clinics of North America [Neurosurg Clin N Am] 2023 Jan; Vol. 34 (1), pp. 61-65. - Publication Year :
- 2023
-
Abstract
- The heritable disorders of connective tissue (HDCTs) are a heterogeneous group of inherited disorders caused by pathogenic variants in genes encoding a wide range of molecules involved in the structure and function of the extracellular matrix. Currently, more than 450 HDCTs are recognized. These include the Ehlers-Danlos syndrome (EDS), Marfan syndrome, Loeys-Dietz syndrome (LDS), Stickler syndrome, and a wide range of skeletal dysplasias. Recent evidence suggests that people with the HDCTs are at an increased risk of Chiari I malformation (CM1).<br /> (Copyright © 2022 Elsevier Inc. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1558-1349
- Volume :
- 34
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Neurosurgery clinics of North America
- Publication Type :
- Academic Journal
- Accession number :
- 36424065
- Full Text :
- https://doi.org/10.1016/j.nec.2022.09.001