Clinical features, RET gene sequence, enhancer genotype and dosage mutations in aCGH analysis of 18 Hirschsprung disease patients.
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Abbreviations: S-HSCR, short segment HSCR; L-HSCR, long segment HSCR; TCA, total colonic aganglionosis; NA = not available.Patients from multiplex families are indicated by *. RET enhancer variant refers to rs2435357 in intron 1 of RET, with ancestral allele.C and derived mutation allele T.
创建时间：
2015-12-02
