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Fig. 4 | Italian Journal of Pediatrics

Fig. 4

From: Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development

Fig. 4

Sequencing analysis of SRD5A2 gene in the cases’ grandfather I-1, grandmother I-2 and maternal uncle II-3. a. The heterozygous mutation p.Q6X (c.16C > T) in SRD5A2 gene was found in the cases’ grandfather and maternal uncle, but not found in their grandmother. b. The heterozygous mutation p.H232R (c.695A > G) in SRD5A2 gene was not found in the cases’ grandfather, grandmother and maternal uncle. Red arrows: mutated nucleotides. Green arrows: unmutated nucleotides

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