Complex Phenotype Associated with 17q21.31 Microdeletion

We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other clinical signs which have rarely or never been described to date. The detected 695-kb 17q21.31 deletion is larger than in most previously reported cases but is still probably th...

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Bibliografski detalji
Glavni autori: Dornelles-Wawruk, H., Pic-Taylor, A., Rosenberg, C., Krepischi, A.C.V., Safatle, H.P.N., Ferrari, I., Mazzeu, J.F.
Format: Artigo
Jezik:Inglês
Izdano: S. Karger AG 2013
Teme:
Short Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3776469/
https://ncbi.nlm.nih.gov/pubmed/24167466
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000354120
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