title: A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.
authors.affiliation: Institute of Medical Biology and Human Genetics, Medical University of Graz, Graz, Austria.
authors.forename: Thomas
authors.initials: T
authors.lastname: Schwarzbraun
authors.forename: Lisa
authors.initials: L
authors.lastname: Ofner
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Barbara
authors.initials: B
authors.lastname: Schaperdoth
authors.forename: Karl-Heinz
authors.initials: KH
authors.lastname: Preisegger
authors.forename: Christian
authors.initials: C
authors.lastname: Windpassinger
authors.forename: Klaus
authors.initials: K
authors.lastname: Wagner
authors.forename: Erwin
authors.initials: E
authors.lastname: Petek
authors.forename: Peter M
authors.initials: PM
authors.lastname: Kroisel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics*; D018895:Microsatellite Repeats; D010375:Pedigree; D010859:Pigmentation Disorders / Q000145:classification / Q000473:pathology*; D014849:Waardenburg Syndrome / Q000145:classification / Q000473:pathology*
chemical_list: C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor