Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing

Figure 1

Results of Sanger sequencing and QF-PCR: (a) a single-base substitution in SLC26A2 (c.292T>C); (b) a three-base deletion in SLC26A2 (c.1018_1020del); (c) a single-base substitution in FGFR3 (c.742C>T); (d) a single-base substitution in FLNB (c.601G>A); (e) a single-base substitution in FGFR3 (c.1138G>A); (f) a single-base substitution in FLNB (c.685T>C); (g) a single-base substitution in exon 3 of TMEM38B (c.344C>A); (h) one copy loss of exon 3 in TMEM38B; (i) one copy loss of exon 4 in TMEM38B.

(a)

(b)

(c)

(d)

(e)

(f)

(g)

(h)

(i)