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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Cytogenet
Egile Nagusiak: Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, Stallone, Raffaella, Palladino, Teresa, Zelante, Leopoldo, Carella, Massimo
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2016
Gaiak:
Case Report
Sarrera elektronikoa: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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