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Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH

Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array-CGH. Clinical features associate mild to moderate developmental delay, typical facial characteristics (high forehead and frontal hairline, broad eyebrows, down-slanting palpebral features, long philt...

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主要な著者: Andrieux, Joris, Dubourg, Christèle, Rio, Marlène, Attie-Bitach, Tania, Delaby, Elsa, Mathieu, Michèle, Journel, Hubert, Copin, Henri, Blondeel, Eléonore, Doco-Fenzy, Martine, Landais, Emilie, Delobel, Bruno, Odent, Sylvie, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel
フォーマット: Artigo
言語:Inglês
出版事項: Wiley-Blackwell 2009
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2874573/
https://ncbi.nlm.nih.gov/pubmed/19921647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33097
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