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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...

詳細記述

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書誌詳細
出版年:Mol Cytogenet
主要な著者: Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, Stallone, Raffaella, Palladino, Teresa, Zelante, Leopoldo, Carella, Massimo
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2016
主題:
オンライン・アクセス: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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