Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

Journal of Medical Genetics

Volumn 37, Issue 6, 2000, Pages 446-448

  Smith, Shelley D ^a   Kelley, Philip M ^a   Kenyon, Judith B ^a   Hoover, Denise ^a  

^a BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

Author keywords

Deafness; MITF; Tietz syndrome; Waardenburg syndrome

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; HEARING IMPAIRMENT; HUMAN; HYPOPIGMENTATION; MISSENSE MUTATION; PRIORITY JOURNAL; TIETZE SYNDROME;

EID: 0034045615     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.6.446     Document Type: Article

References (18)

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