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Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Am J Med Genet. 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123.
Am J Med Genet. 1995.
PMID: 7702105
Review.
Both were more common in Type II than in Type I. Other clinical manifestations, such as white forelock and skin patches, were more frequent in Type I. We estimate the frequency of phenotypic traits and propose diagnostic criteria for WS Type II. ...
Both were more common in Type II than in Type I. Other clinical manifestations, such as white forelock and skin patches, were …
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA.
DeStefano AL, et al.
Hum Genet. 1998 May;102(5):499-506. doi: 10.1007/s004390050732.
Hum Genet. 1998.
PMID: 9654197
Association between mutation class and the presence of hearing loss, eye pigment abnormality, skin hypopigmentation, or white forelock was evaluated using generalized estimating equations, which allowed for incorporation of a correlation structure that accounts for …
Association between mutation class and the presence of hearing loss, eye pigment abnormality, skin hypopigmentation, or white fore …
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