Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal.
Izumi
K
K
Kohta
T
T
Kimura
Y
Y
Ishida
S
S
Takahashi
T
T
Ishiko
A
A
Kosaki
K
K
D000328:Adult; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008543:Melanins / Q000378:metabolism; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D013991:Tietze's Syndrome / Q000235:genetics*
C497234:MITF protein, human; D008543:Melanins; D051739:Microphthalmia-Associated Transcription Factor