Two New de novo Interstitial Duplications Covering 2p14p22.1: Clinical and Molecular Analysis
Author:
Publisher
S. Karger AG
Subject
Genetics(clinical),Genetics,Molecular Biology
Reference35 articles.
1. Epilepsy and brain abnormalities in mice lacking the Otx1 gene
2. Common recurrent microduplication syndromes: Diagnosis and management in clinical practice
3. Perturbations of chromatin structure in human genetic disease: recent advances
4. Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening
5. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2
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2. A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58;Human Molecular Genetics;2020-04-27
3. Considering specific clinical features as evidence of pathogenic copy number variants;Journal of Applied Genetics;2014-02-18
4. Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22;American Journal of Medical Genetics Part A;2013-09-24
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