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Comment
. 2020 Aug;182(8):1861-1864.
doi: 10.1002/ajmg.a.61620. Epub 2020 May 20.

Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4

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Comment

Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4

Patricia N Moretti et al. Am J Med Genet A. 2020 Aug.
No abstract available

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References

REFERENCES

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    1. 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.
    1. 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.
    1. 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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