Ganglioglioma in a Sotos syndrome patient with anNSD1 deletion
β Scribed by Deardorff, Matthew A. ;Maisenbacher, Melissa ;Zackai, Elaine H.
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 63 KB
- Volume
- 130A
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We report on a child with choanal atresia and deletion 9p. A review of the literature documented one previous instance of choanal atresia in a patient with del(9p). Choanal atresia may be part of the spectrum of malformations in the deletion (9p) syndrome and its presence should prompt a search for
The Nager syndrome is the most common form of acrofacial dysostosis. Although autosomal dominant and recessive forms of acrofacial dysostosis have been described the molecular etiology of these disorders is unknown. We report on a child with acrofacial dysostosis, critical aortic stenosis, and a del