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Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R. Gavril EC, et al. Genes (Basel). 2023 Feb 11;14(2):465. doi: 10.3390/genes14020465. Genes (Basel). 2023. PMID: 36833393 Free PMC article. Review.
2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric deletion disorders, caused by a 2q37 deletion of variable size. ...RESULTS: From nine cases, four had pure 2q37 deletions of variable sizes, and f …
2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric deletion disorders, caused …
Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.
Le TN, Williams SR, Alaimo JT, Elsea SH. Le TN, et al. 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.
The 2q37 deletion syndrome, also described in the literature as brachydactyly-mental retardation syndrome (MIM 600430), is caused by deletion or haploinsufficiency of the HDAC4 gene, which encodes the histone deacetylase 4 protein. Although the …
The 2q37 deletion syndrome, also described in the literature as brachydactyly-mental retardation syndrome (MIM 6 …