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Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike

Craniofacial abnormality is one of the major clinical manifestations of Smith-Magenis syndrome (SMS). Previous analyses in a mixed genetic background of several SMS mouse models—including Df(11)17/+ and Df(11)17-1/+, which have 2-Mb and 590-kb deletions, respectively, and Rai1(−/+)—revealed that the...

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Bibliographische Detailangaben
Hauptverfasser: Yan, Jiong, Bi, Weimin, Lupski, James R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2007
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1821110/
https://ncbi.nlm.nih.gov/pubmed/17273973
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