Genotype–phenotype correlation of 30 patients with Smith‐Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions

BACKGROUND: Smith‐Magenis syndrome (SMS) is rare (prevalence 1 in 25 000) and is associated with psychomotor delay, a particular behavioural pattern and congenital anomalies. SMS is often due to a chromosomal deletion of <4 Mb at the 17p11.2 locus, leading to haploinsufficiency of numerous genes....

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書誌詳細
主要な著者: Andrieux, J, Villenet, C, Quief, S, Lignon, S, Geffroy, S, Roumier, C, de Leersnyder, H, de Blois, M‐C, Manouvrier, S, Delobel, B, Benzacken, B, Bitoun, P, Attie‐Bitach, T, Thomas, S, Lyonnet, S, Vekemans, M, Kerckaert, J‐P
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2007
主題:
Letter to JMG
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597929/
https://ncbi.nlm.nih.gov/pubmed/17468296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.048736
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