Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, and characteristic facial features. These clinical features are shared with six recently reported patients with a...

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Bibliografski detalji
Glavni autori: El-Hattab, Ayman W., Smolarek, Teresa A., Walker, Martha E., Schorry, Elizabeth K., Immken, LaDonna L., Patel, Gayle, Abbott, Mary-Alice, Lanpher, Brendan C., Ou, Zhishuo, Kang, Sung-Hae L., Patel, Ankita, Scaglia, Fernando, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel
Format: Artigo
Jezik:Inglês
Izdano: 2009
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3669685/
https://ncbi.nlm.nih.gov/pubmed/19557438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-009-0706-x
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