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A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.
Eur J Med Genet. 2009 Mar-Jun;52(2-3):123-7. doi: 10.1016/j.ejmg.2009.03.012. Epub 2009 Mar 28.
Eur J Med Genet. 2009.
PMID: 19332160
Free PMC article.
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.
Krakow D, Lachman RS, Rimoin DL.
Krakow D, et al.
Genet Med. 2009 Feb;11(2):127-33. doi: 10.1097/GIM.0b013e3181971ccb.
Genet Med. 2009.
PMID: 19265753
Free PMC article.
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