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Tietz syndrome (hypopigmentation/deafness) caused by mutation of<i>MITF</i>: Figure 1

1 Jun 2000

Abstract excerpt

Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically have patchy depigmentation and variable penetrance. Only one family has been reported with the exact...

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Identifiers

PMID: 10851256
DOI: 10.1136/jmg.37.6.446

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Tietz syndrome (hypopigmentation/deafness) caused by mutation of<i>MITF</i>: Figure 1PMID 10851256Read ↗

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