Birth Defects Orig Artic Ser. 1971 Mar;07(4):87-101.

Genetic heterogeneity in the Waardenburg syndrome.

Abstract

Waardenbury syndrome is divided into three groups: Type I, with dystopia; Type II, and "pseudo-Waardenburg" syndrome, without dystopia; the third has unilateral congenital ptosis. Using Waardenburg's original variables a, b and c, ratios a/b and c/a, Cotterman's L function, newly described indices X and Y and some phenotypic manifestations, a confident neat separation of each type can be obtained. New cases of all types and electron micrographs of the hair pigment anomaly are described.

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Review Heterogeneity in Waardenburg syndrome. [Am J Hum Genet. 1977]
Review Heterogeneity in Waardenburg syndrome.
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Cited by 13 PubMed Central articles

Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome? [Am J Med Genet A. 2008]
Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?
Gad A, Laurino M, Maravilla KR, Matsushita M, Raskind WH. Am J Med Genet A. 2008 Jul 15; 146A(14):1880-5.
Review The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1). [J Med Genet. 1997]
Review The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
Morell R, Friedman TB, Asher JH Jr, Robbins LG. J Med Genet. 1997 Jun; 34(6):447-52.
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. [Am J Hum Genet. 1996]
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.
Nobukuni Y, Watanabe A, Takeda K, Skarka H, Tachibana M. Am J Hum Genet. 1996 Jul; 59(1):76-83.

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Genetic heterogeneity in the Waardenburg syndrome.

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Cited by 13 PubMed Central articles

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