Fig. 3
From: Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report
Mutation sites of the siblings and their family. a Homozygous c.518T>A (p.I173N) CYP21A2 mutation seen in the proband. b Heterozygous c.1451-1452delGGinsC (p.R484pfs*58) CYP21A2 mutation seen in the proband. c Homozygous c.518T>A (p.I173N) CYP21A2 mutation seen in the proband’s brother. d Heterozygous c.1451-1452delGGinsC (p.R484pfs*58) CYP21A2 mutation seen in the proband’s brother. e Heterozygous c.518T>A (p.I173N) CYP21A2 mutation of the proband’s mother. f Heterozygous c.1451-1452delGGinsC (p.R484pfs*58) CYP21A2 mutation of the proband’s mother. g. Heterozygous c.518T>A (p.I173N) CYP21A2 mutation of the proband’s father. h Normal sequence at this CYP21A2 locus in the proband’s father. i MLPA results showing that ZFY4 was a Y chromosome probe, so its absence in females is normal