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Genetic heterogeneity in the Waardenburg syndrome.
Birth Defects Orig Artic Ser. 1971 Mar; 07(4):87-101.BD

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.

Authors

No affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

5006208

Citation

Arias, S. "Genetic Heterogeneity in the Waardenburg Syndrome." Birth Defects Original Article Series, vol. 07, no. 4, 1971, pp. 87-101.
Arias S. Genetic heterogeneity in the Waardenburg syndrome. Birth Defects Orig Artic Ser. 1971;07(4):87-101.
Arias, S. (1971). Genetic heterogeneity in the Waardenburg syndrome. Birth Defects Original Article Series, 07(4), 87-101.
Arias S. Genetic Heterogeneity in the Waardenburg Syndrome. Birth Defects Orig Artic Ser. 1971;07(4):87-101. PubMed PMID: 5006208.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic heterogeneity in the Waardenburg syndrome. A1 - Arias,S, PY - 1971/3/1/pubmed PY - 1971/3/1/medline PY - 1971/3/1/entrez SP - 87 EP - 101 JF - Birth defects original article series JO - Birth Defects Orig Artic Ser VL - 07 IS - 4 N2 - 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. SN - 0547-6844 UR - https://www.unboundmedicine.com/medline/citation/5006208/Genetic_heterogeneity_in_the_Waardenburg_syndrome_ L2 - http://www.diseaseinfosearch.org/result/7423 DB - PRIME DP - Unbound Medicine ER -