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Fig. 2 | Human Genomics

Fig. 2

From: Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

Fig. 2

Novel variants in CHH genes. Just one novel variant in PROKR2 was found (p.W352G). This change found in patient 171, c.T1054G:p.W352G, is heterozygous and has good quality and depth (a). This change falls on a highly conserved residue (b) and lies within the cytoplasmic tail of this transmembrane receptor (c). Three novel variants in WDR11 were found in our cohort—all of which affect a highly conserved residue (d)

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Human Genomics

ISSN: 1479-7364