Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)

Clinical Dysmorphology

Volumn 7, Issue 1, 1998, Pages 17-20

  Amiel, Jeanne ^a   Watkin, Peter M ^b   Tassabehji, Mayada ^c   Read, Andrew P ^c   Winter, Robin M ^d  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b WHIPPS CROSS UNIVERSITY HOSPITAL   (United Kingdom)

^c ST MARY S HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Albinism; MITF gene; Sensorineural deafness; Tietz syndrome

Indexed keywords

ADULT; ALBINISM; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; FEMALE; GENE DELETION; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; MALE; MULTIGENE FAMILY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SKIN PIGMENTATION; TIETZE SYNDROME;

EID: 0031964911     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199801000-00003     Document Type: Article

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