A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features

The recurrent 10q22.3q23.2 deletion with breakpoints within low copy repeats 3 and 4 is a rare genomic disorder, reported in only 13 patients to date. The phenotype is rather uncharacteristic, which makes a clinical diagnosis difficult. A phenotypic feature described in almost all patients is a dela...

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Bibliografske podrobnosti
Main Authors: Petrova, E., Neuner, C., Haaf, T., Schmid, M., Wirbelauer, J., Jurkutat, A., Wermke, K., Nanda, I., Kunstmann, E.
Format: Artigo
Jezik:Inglês
Izdano: S. Karger AG 2014
Teme:
Original Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3919489/
https://ncbi.nlm.nih.gov/pubmed/24550761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000355847
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