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2q37 deletion syndrome

Chromosome 2q37 deletion syndromeBrachydactyly-mental retardation syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "2q37 deletion syndrome" returned 0 free, full-text review articles. First 0 results:
Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.
Last Updated: Apr 21, 2020

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 most commonly described hallmark features ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "2q37 deletion syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "2q37 deletion syndrome" returned 4 free, full-text research articles. First few results:
The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome.
Last Updated: May 11, 2020

Gürsoy S, Kutbay YB, Özdemir TR, Hazan F. The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome. Turk J Pediatr 2019; 61: 589-593. Chromosome 2q37 deletion syndrome is a rare chromosomal disorder which is characterized ...

Reorganization of chromosomal interactions in the 2q37-deletion syndrome.
Last Updated: Aug 02, 2019

Chromosomes occupy distinct interphase territories in the three-dimensional nucleus. However, how these chromosome territories are arranged relative to one another is poorly understood. Here, we investigated the chromosomal interactions between chromosomes 2q, 12, and 17 in human ...

Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size.
Last Updated: Aug 27, 2018

Subtelomeric deletions have been reported in ∼2.5% of individuals with developmental disabilities. Subtelomeric deletion 2q37 has been detected in many individuals diagnosed with intellectual disabilities (ID) and autism spectrum disorders (ASD). Previously, genotype-phenotype correspondences ...

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