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The Chiari Malformations

Genetics of the chiari I and II malformations

Publication ,  Chapter
Markunas, CA; Ashley-Koch, AE; Gregory, SG
January 1, 2020

Chiari malformations are considered to have a multifactorial etiology, likely influenced by environmental and genetic factors. This chapter will detail the evidence that supports a genetic contribution to the disorder, including discussions of twin studies, familial aggregation, co-occurrence with known genetic syndromes, and previous genetic studies. While no susceptibility genes have been identified to date, gene identification efforts are continuing. It is expected that researchers will have a more complete understanding of the specific genes and biological pathways that contribute to disease development in the coming years. The future benefits from genetic research of Chiari I and II may include the development of genetic tests that result in more accurate and faster diagnoses as well as new targeted treatment options for patients.

Duke Scholars

DOI

ISBN

9783030448615

Publication Date

January 1, 2020

Start / End Page

289 / 297
 

Citation

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Markunas, C. A., Ashley-Koch, A. E., & Gregory, S. G. (2020). Genetics of the chiari I and II malformations. In The Chiari Malformations (pp. 289–297). https://doi.org/10.1007/978-3-030-44862-2_23
Markunas, C. A., A. E. Ashley-Koch, and S. G. Gregory. “Genetics of the chiari I and II malformations.” In The Chiari Malformations, 289–97, 2020. https://doi.org/10.1007/978-3-030-44862-2_23.
Markunas CA, Ashley-Koch AE, Gregory SG. Genetics of the chiari I and II malformations. In: The Chiari Malformations. 2020. p. 289–97.
Markunas, C. A., et al. “Genetics of the chiari I and II malformations.” The Chiari Malformations, 2020, pp. 289–97. Scopus, doi:10.1007/978-3-030-44862-2_23.
Markunas CA, Ashley-Koch AE, Gregory SG. Genetics of the chiari I and II malformations. The Chiari Malformations. 2020. p. 289–297.
Journal cover image

DOI

ISBN

9783030448615

Publication Date

January 1, 2020

Start / End Page

289 / 297