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Further Characterization of Microdeletion Syndrome Involving 2p15-p16.1

We report on a patient presenting with cognitive delay, prenatal and postnatal growth deficiency, microcephaly, ptosis of eyelids, high and broad nasal root and camptodactyly. Analysis of a dense whole genome SNP array showed a de novo 3.35Mb deletion on 2p15-p16.1. In order to study the parental or...

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Bibliografski detalji
Glavni autori: Félix, Têmis Maria, Petrin, Aline Lourenço, Sanseverino, Maria Teresa Vieira, Murray, Jeffrey C.
Format: Artigo
Jezik:Inglês
Izdano: 2010
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2946431/
https://ncbi.nlm.nih.gov/pubmed/20799320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33612
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