Heterogeneity in Waardenburg's Syndrome

„Auditory pigmentary syndromes“ — klinische Erscheinungsbilder und genetischer Hintergrund

“…This family provides additional evidence for the importance of exact observation of the clinical phenotype as a step to shed light on the underlying mechanisms at the molecular level. [12,14].…”

„Auditory pigmentary syndromes“ — klinische Erscheinungsbilder und genetischer Hintergrund

“…This family provides additional evidence for the importance of exact observation of the clinical phenotype as a step to shed light on the underlying mechanisms at the molecular level. [12,14].…”

Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability

“…Subsequently, the Waardenburg Index (WI), proposed by consortium members, has been used to discriminate between these two types [Arias, 1971;Arias and Mota, 1978;Bard, 1978].…”

Autosomal and X-Linked Auditory Disorders

“…The first is a single family with Tietz-Smith syndrome (Table 6.5), whose phenotype comprises sensorineural hearing loss and uniform pigmentation dilution. The second exception is a family with an atypical phenotype comprising WS2 features in conjunction with autosomal recessive ocular albinism (AROA; Table 6.5) (Bard 1978;. The phenotype in this family was associated with a heterozygous MITF frameshift mutation in combination with a homozygous or heterozygous temperature-sensitive common polymorphism (TYR R402Q ) in the tyrosinase gene (TYR) that results in reduced tyrosinase catalytic activity.…”

„Auditory pigmentary syndromes“ — klinische Erscheinungsbilder und genetischer Hintergrund

“…This family provides additional evidence for the importance of exact observation of the clinical phenotype as a step to shed light on the underlying mechanisms at the molecular level. [12,14].…”

Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability

“…Subsequently, the Waardenburg Index (WI), proposed by consortium members, has been used to discriminate between these two types [Arias, 1971;Arias and Mota, 1978;Bard, 1978].…”

Autosomal and X-Linked Auditory Disorders

“…The first is a single family with Tietz-Smith syndrome (Table 6.5), whose phenotype comprises sensorineural hearing loss and uniform pigmentation dilution. The second exception is a family with an atypical phenotype comprising WS2 features in conjunction with autosomal recessive ocular albinism (AROA; Table 6.5) (Bard 1978;. The phenotype in this family was associated with a heterozygous MITF frameshift mutation in combination with a homozygous or heterozygous temperature-sensitive common polymorphism (TYR R402Q ) in the tyrosinase gene (TYR) that results in reduced tyrosinase catalytic activity.…”

„Auditory pigmentary syndromes“ — klinische Erscheinungsbilder und genetischer Hintergrund

“…This family provides additional evidence for the importance of exact observation of the clinical phenotype as a step to shed light on the underlying mechanisms at the molecular level. [12,14].…”

Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability

“…Subsequently, the Waardenburg Index (WI), proposed by consortium members, has been used to discriminate between these two types [Arias, 1971;Arias and Mota, 1978;Bard, 1978].…”

Autosomal and X-Linked Auditory Disorders

“…The first is a single family with Tietz-Smith syndrome (Table 6.5), whose phenotype comprises sensorineural hearing loss and uniform pigmentation dilution. The second exception is a family with an atypical phenotype comprising WS2 features in conjunction with autosomal recessive ocular albinism (AROA; Table 6.5) (Bard 1978;. The phenotype in this family was associated with a heterozygous MITF frameshift mutation in combination with a homozygous or heterozygous temperature-sensitive common polymorphism (TYR R402Q ) in the tyrosinase gene (TYR) that results in reduced tyrosinase catalytic activity.…”