Tietz syndrome

(tēts'), [MIM*103500] autosomal dominant inheritance of albinism and deafness caused at least in some subsets of families by a mutation of the microophthalmia transcription factor gene on chromosome 3p.

Tietz syndrome

An autosomal dominant disorder (OMIM:103500) characterised by generalised hypopigmentation and profound congenital deafness.
Molecular pathology
Caused by defects of MITF, which encodes microphthalmia-associated transcription factor, a protein that regulates melanocytes and retinal pigment epithelium, and is responsible for pigment cell-specific transcription of melanogenesis enzyme genes.

Tietz syn·drome

(tēts sin'drōm) Autosomal dominant inheritance of albinism and deafness caused at least in some subsets of families by a mutation of the microophthalmia transcription factor gene.

单词	tietz syndrome
释义	Tietz syndrome Tietz syndrome (tēts'), [MIM103500] autosomal dominant inheritance of albinism and deafness caused at least in some subsets of families by a mutation of the microophthalmia transcription factor gene on chromosome 3p. Tietz syndrome (tēts'), [MIM103500] autosomal dominant inheritance of albinism and deafness caused at least in some subsets of families by a mutation of the microophthalmia transcription factor gene on chromosome 3p. Tietz syndrome An autosomal dominant disorder (OMIM:103500) characterised by generalised hypopigmentation and profound congenital deafness. Molecular pathology Caused by defects of MITF, which encodes microphthalmia-associated transcription factor, a protein that regulates melanocytes and retinal pigment epithelium, and is responsible for pigment cell-specific transcription of melanogenesis enzyme genes. Tietz syn·drome (tēts sin'drōm) Autosomal dominant inheritance of albinism and deafness caused at least in some subsets of families by a mutation of the microophthalmia transcription factor gene.
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