A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with...

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Vydáno v:Case Rep Genet
Hlavní autoři: Mandrile, Giorgia, Di Gregorio, Eleonora, Calcia, Alessandro, Brussino, Alessandro, Grosso, Enrico, Savin, Elisa, Giachino, Daniela Francesca, Brusco, Alfredo
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4259072/
https://ncbi.nlm.nih.gov/pubmed/25506442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/470830
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