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bn:02530350n
Noun Concept
Categories: Rare syndromes, All articles with unsourced statements, Autosomal dominant disorders, Transcription factor deficiencies, Disturbances of human pigmentation
EN
Tietz syndrome  albinism-deafness of Tietz  albinism and deafness of Tietz  Hypopigmentation-deafness syndrome  hypopigmentation/deafness of Tietz
EN
Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant congenital disorder characterized by deafness and leucism. Wikipedia
Definitions
Relations
Sources
EN
Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant congenital disorder characterized by deafness and leucism. Wikipedia
Monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on chromosome 3p13 Wikidata
IS A
rare disease
leukoderma
syndrome
DIFFERENT FROM
Tietze's syndrome
GENETIC ASSOCIATION
microphthalmia-associated transcription factor
HEALTH SPECIALTY
pediatrics
Wikipedia
EN
Tietz syndrome
Wikidata
EN
Tietz syndrome
Wikipedia Redirections
EN
albinism and deafness of Tietz, Tietz's syndrome, Tietz 's syndrome, Tietz albinism-deafness syndrome
Wikidata Alias
EN
albinism-deafness of Tietz, Hypopigmentation-deafness syndrome, hypopigmentation/deafness of Tietz, Tietz albinism-deafness syndrome, TIETZ SYNDROME

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