Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample.

Gene（2017）

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摘要

The effect of heterozygous duplications of SHOX and associated elements on Lėri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) development is less distinct when compared to reciprocal deletions.

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关键词

ASMT,CNE,CNV,DECIPHER,DGV,ISS,LMD,LWD,MLPA,MRKH,PAR1,SD,SHOX

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