Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4
- PMID: 32432407
- DOI: 10.1002/ajmg.a.61620
Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4
Comment on
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Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.Am J Med Genet A. 2019 May;179(5):782-791. doi: 10.1002/ajmg.a.61089. Epub 2019 Mar 7. Am J Med Genet A. 2019. PMID: 30848064 Review.
References
REFERENCES
-
- Franke, M., Ibrahim, D. M., Andrey, G., Schwarzer, W., Heinrich, V., Schopflin, R., … Mundlos, S. (2016). Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature, 538(7624), 265-269.
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- Imitola, J., Khurana, D. S., Teplyuk, N. M., Zucker, M., Jethva, R., Legido, A., … Carvalho, K. S. (2015). A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly. American Journal of Medical Genetics. Part A, 167A(11), 2808-2816.
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- Jean-Marcais, N., Decamp, M., Gerard, M., Ribault, V., Andrieux, J., Kottler, M. L., & Plessis, G. (2015). The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. American Journal of Medical Genetics. Part A, 167A(1), 185-189.
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- Le, T. N., Williams, S. R., Alaimo, J. T., & Elsea, S. H. (2019). Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor. American Journal of Medical Genetics. Part A, 179A(5), 782-791.
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- Lee, J. R., Srour, M., Kim, D., Hamdan, F. F., Lim, S. H., Brunel-Guitton, C., … Michaud, J. L. (2015). De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Human Mutation, 36(1), 69-78.
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