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Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
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PITX2 gain-of-function induced defects in mouse forelimb development.
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Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.
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Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.
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High incidence of SHOX anomalies in individuals with short stature.
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A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
Am J Hum Genet. 2005 Oct;77(4):533-44. doi: 10.1086/449313. Epub 2005 Aug 15.
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Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.
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