Further delineation of the hypotrichosis-deafness syndrome.

Abstract excerpt

We recently delineated a novel disorder characterized by hypotrichosis, nail dystrophy and sensorineural deafness and caused by a missense mutation in GJB2 (connexin26). The patient, a girl, was two years old when we first saw her. We had the opportunity to re-examine her at four years of age and found that the phenotype had changed appreciably. The hypotrichosis was less pronounced, but the nail dystrophy had...

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