A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2007-03, Vol.143A (6), p.619-624
Main Authors: Schwarzbraun, Thomas, Ofner, Lisa, Gillessen-Kaesbach, Gabriele, Schaperdoth, Barbara, Preisegger, Karl-Heinz, Windpassinger, Christian, Wagner, Klaus, Petek, Erwin, Kroisel, Peter M.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Chromosome Banding
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 3 - genetics
Gene Deletion
Genetic Predisposition to Disease
Humans
Infant
Karyotyping
Male
Microphthalmia-Associated Transcription Factor - genetics
Microsatellite Repeats
Pedigree
Pigmentation Disorders - classification
Pigmentation Disorders - pathology
Waardenburg Syndrome - classification
Waardenburg Syndrome - pathology
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31627