Clinical and molecular characterization of a de novo 19p13.3 microdeletion

BACKGROUND: Structural rearrangements of chromosome 19p13.3 are a rare condition, and their phenotypic consequences remain not well defined, because of the variability of clinical manifestations. Increasing knowledge of new 19p13.3 microdeletion is useful to clarify the phenotypic variability observ...

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Podrobná bibliografie
Vydáno v:Mol Cytogenet
Hlavní autoři: Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, Stallone, Raffaella, Palladino, Teresa, Zelante, Leopoldo, Carella, Massimo
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4882821/
https://ncbi.nlm.nih.gov/pubmed/27239227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0252-x
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