Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome

OBJECTIVE: To delineate a novel autosomal recessive multiple congenital anomaly-mental retardation (MCA-MR) syndrome in 2 female siblings of a consanguineous pedigree and to identify the disease-causing mutation. STUDY DESIGN: Both siblings were clinically characterized and homozygosity mapping and...

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書誌詳細
主要な著者: Vodopiutz, Julia, Zoller, Heinz, Fenwick, Aimée L., Arnhold, Richard, Schmid, Max, Prayer, Daniela, Müller, Thomas, Repa, Andreas, Pollak, Arnold, Aufricht, Christoph, Wilkie, Andrew O.M., Janecke, Andreas R.
フォーマット: Artigo
言語:Inglês
出版事項: Mosby 2013
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Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3757162/
https://ncbi.nlm.nih.gov/pubmed/23069192
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2012.08.042
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