Fig. 2: SOX10 protein domains and positions of SOX10 rare sequence variants (RSVs) identified in idiopathic hypogonadotropic hypogonadism (IHH), Waardenburg syndrome (WS), and gnomAD. | Genetics in Medicine

Fig. 2: SOX10 protein domains and positions of SOX10 rare sequence variants (RSVs) identified in idiopathic hypogonadotropic hypogonadism (IHH), Waardenburg syndrome (WS), and gnomAD.

From: Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants

Fig. 2: SOX10 protein domains and positions of SOX10 rare sequence variants (RSVs) identified in idiopathic hypogonadotropic hypogonadism (IHH), Waardenburg syndrome (WS), and gnomAD.

Heterozygous loss-of-function (LOF) alleles are shown in red circles; heterozygous missense alleles are shown in black circles; homozygous missense alleles are shown in green circles. *Only single-nucleotide variants associated with WS are shown and SOX10 structural variants are not depicted.

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