Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.

Por Nobukuni, Y., Watanabe, A., Takeda, K., Skarka, H., Tachibana, M.
Publicado em 1996

A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.

Por Lalwani, A. K., Brister, J. R., Fex, J., Grundfast, K. M., Pikus, A. T., Ploplis, B., San Agustin, T., Skarka, H., Wilcox, E. R.
Publicado em 1994