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Revista de Ciencias Médicas de Pinar del Río
versão On-line ISSN 1561-3194
Resumo
CASTRO PEREZ, Fidel et al. Waardenburg syndrome: variability in a Sandino family. Rev Ciencias Médicas [online]. 2011, vol.15, n.2, pp. 204-214. ISSN 1561-3194.
Waardenburg Syndrome (WS) is a non-frequent autosomal dominant disease, showing a certain degree of disability when neurosensitive hypoacusia appears; however, in Sandino, Pinar de Río, Cuba a family, from whom 26 alive relatives show WS. The general study of this family from the first ill relative, and the individual variability is showed.
Palavras-chave : Waardenburg syndrome [genetics]; Waardenburg syndrome [physiopathology]; iris; deafness; pigmentation.