A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

BACKGROUND: Interstitial deletions affecting the proximal long arm of chromosome 3 have been rarely reported in the literature. The deleted segments vary in localization and size with different breakpoints making genotype-phenotype correlation very difficult. Until now, a girl with a 1.9-Mb intersti...

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Bibliografiske detaljer
Main Authors: Gimelli, Stefania, Leoni, Massimiliano, Di Rocco, Maja, Caridi, Gianluca, Porta, Simona, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2013
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3906914/
https://ncbi.nlm.nih.gov/pubmed/24279697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-52
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