Genetic heterogeneity in the Waardenburg syndrome. [Birth Defects Orig Artic Ser. 1971]

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

Genetic heterogeneity in the Waardenburg syndrome.

Arias S.

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.

PMID: 5006208 [PubMed - indexed for MEDLINE]

Heterogeneity in Waardenburg syndrome. [Am J Hum Genet. 1977]
Ophthalmological findings in 34 patients with Waardenburg syndrome. [J Pediatr Ophthalmol Strabismus. 1978]
[Waardenburg syndrome. Report of a familial case] [Ann Pediatr (Paris). 1990]
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. [Arch Ophthalmol. 1978]
[Atypical manifestations in familial type 1 Waardenburg syndrome] [Ann Dermatol Venereol. 1998]
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Genetic heterogeneity in the Waardenburg syndrome.

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