A new syndrome combining developmental anomalies of the eyelids, eyebrows, and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Dystopia canthi medialis et punctorum lacrimalium lateroversa, hyperplasia supercilii medialis et readicis nasi.
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Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
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2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3
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A patient with alopecia, nail dystrophy, palmoplantar hyperkeratosis, keratitis, hearing difficulty and micrognathia without GJB2 or GJB6 mutations: A new type of hidrotic ectodermal dysplasia? [17]
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