Fig. 1: Family pedigrees of probands with SOX10 rare sequence variants (RSVs) identified in the Massachusetts General Hospital (MGH) idiopathic hypogonadotropic hypogonadism (IHH) cohort. | Genetics in Medicine

Fig. 1: Family pedigrees of probands with SOX10 rare sequence variants (RSVs) identified in the Massachusetts General Hospital (MGH) idiopathic hypogonadotropic hypogonadism (IHH) cohort.

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

Fig. 1: Family pedigrees of probands with SOX10 rare sequence variants (RSVs) identified in the Massachusetts General Hospital (MGH) idiopathic hypogonadotropic hypogonadism (IHH) cohort.

Pedigrees are sorted by presence (a) or absence (b) of Waardenburg syndrome (WS)-associated features. Probands are identified by arrows. + wild-type (WT) allele; M mutant allele. KS Kallmann syndrome, nIHH normosmic idiopathic hypogonadotropic hypogonadism.

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