A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.
Schwarzbraun
Thomas
T
Institute of Medical Biology and Human Genetics, Medical University of Graz, Graz, Austria.
Ofner
Lisa
L
Gillessen-Kaesbach
Gabriele
G
Schaperdoth
Barbara
B
Preisegger
Karl-Heinz
KH
Windpassinger
Christian
C
Wagner
Klaus
K
Petek
Erwin
E
Kroisel
Peter M
PM
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*
C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor