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A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis

7 Aug 2015

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PMID: 26278498
DOI: 10.1016/j.ejpn.2015.07.013

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A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysisPMID 26278498Read ↗

Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.Semantic proximity Read ↗

A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.Semantic proximity Read ↗

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.Semantic proximity Read ↗

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.Semantic proximity Read ↗

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.Semantic proximity Read ↗

Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome?Semantic proximity Read ↗

A case which further refines the critical region for 15q25.2 microduplication phenotypes.Semantic proximity Read ↗

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.Semantic proximity Read ↗

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.Semantic proximity Read ↗

The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15.Semantic proximity Read ↗

A report of a patient with interstitial deletion of 15q22: further delineation of a new micro deletion syndrome.Semantic proximity Read ↗

An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.Semantic proximity Read ↗

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