Mutational Analysis of Compound Heterozygous Mutation P.q6x/p.h232r in Srd5a2 Causing 46,xy Disorder of Sex Development
The Italian Journal of Pediatrics/Italian journal of pediatrics（2022）
关键词
46,XY DSD,SRD5A2,p.Q6X/p.H232R mutation,Dihydrotestosterone,5α-reductase 2 catalytic efficiency
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