摘要: Dyschondrosteosis (DCS) has been recently ascribed to mutations of the SHOX gene on pseudoautosomal region X and Y chromosomes.1 2 Most cases are accounted for by large scale deletions3-7 only two point have hitherto identified in exon 4 (R195 Y199X1 2). Here, we show that various regions also play an important role pathogenesis disease. A total 22 affected subjects belonging eight families were included study. Inclusion criteria status short stature (2 SD below normal) with forelimbs …
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