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Gene for Waardenburg syndrome type I is located at 2q35, not at 2q37.3

โœ Scribed by Ishikiriyama, Satoshi


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
61 KB
Volume
46
Category
Article
ISSN
0148-7299

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Myelomeningocele and Waardenburg syndrom
โœ Nye, Jeffrey S.; Balkin, Nancy; Lucas, Heather; Knepper, Paul A.; McLone, David ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 47 KB ๐Ÿ‘ 1 views

From a spina bifida clinic we have identified two patients with a syndrome of myelomeningocele and Waardenburg syndrome type 3 (WS3). The patients each possess a single, de novo, interstitial deletion of chromosome 2 (2q35-36.2), including the PAX3 gene. Deletion of PAX3 was confirmed by fluorescenc