DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Bunyan DJ, Baker KR, Harvey JF, Thomas NS.
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.
Am J Med Genet A 2013;
161A (06) 1329-1338
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