Tietz syndrome: Unique phenotype specific to mutations of MITF nuclear localization signal

Clinical Genetics

Volumn 74, Issue 1, 2008, Pages 93-95

  Izumi, T ^a   Kohta, A ^a   Kimura, Y ^a   Ishida, S ^a   Takahashi, T ^a   Ishiko, A ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR;

ADULT; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; ELECTRON MICROSCOPY; EXON; FEMALE; GENE DELETION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; HYPOPIGMENTATION; LETTER; MICROSCOPY; MUTATIONAL ANALYSIS; NUCLEAR LOCALIZATION SIGNAL; OPHTHALMOSCOPY; PERCEPTION DEAFNESS; PHENOTYPIC VARIATION; PIGMENT EPITHELIUM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN BIOPSY; TIETZ SYNDROME;

ADULT; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MELANINS; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MUTATION; PHENOTYPE; TIETZE'S SYNDROME;

EID: 45149113805     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01010.x     Document Type: Letter

References (7)

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