Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A

Partial monosomy 21 has been reported, but the phenotypes described are variable with location and size of the deletion. We present 2 patients with a partially overlapping microdeletion of 21q22 and a striking phenotypic resemblance. They both presented with severe psychomotor delay, behavioral prob...

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書誌詳細
主要な著者: Oegema, R., de Klein, A., Verkerk, A.J., Schot, R., Dumee, B., Douben, H., Eussen, B., Dubbel, L., Poddighe, P.J., van der Laar, I., Dobyns, W.B., van der Spek, P.J., Lequin, M.H., de Coo, I.F.M., de Wit, M.-C.Y., Wessels, M.W., Mancini, G.M.S.
フォーマット: Artigo
言語:Inglês
出版事項: S. Karger AG 2010
主題:
Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2957846/
https://ncbi.nlm.nih.gov/pubmed/21031080
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000320113
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