Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1-22.2
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35353/fullpdf
Reference27 articles.
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2. A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency;Ashkenazi-Hoffnung;Hum Genet,2010
3. Direct fluorescent labelling of clones by DOP PCR;Backx;Mol Cytogenet,2008
4. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: Overlap between the BMP4 and hedgehog signaling pathways;Bakrania;Am J Hum Genet,2008
5. Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities;Bennett;J Med Genet,1991
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