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Genetic Testing in Infantile Spasms Identifies a Chromosome 13q Deletion and Retinoblastoma

โœ Scribed by Jones, Kevin; Minassian, Berge A.


Book ID
122119425
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
174 KB
Volume
50
Category
Article
ISSN
0887-8994

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Retinoblastoma and Hirschsprung disease
โœ Weigel, Brenda J.; Pierpont, Mary Ella M.; Young, Terri L.; Mutchler, Scott B.; ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 23 KB ๐Ÿ‘ 3 views

Retinoblastoma is a rare pediatric malignancy (1/20,000) while Hirschsprung disease is a relatively common pediatric disorder (1/ 5,000). We describe a boy with bilateral retinoblastoma, Hirschsprung disease, multiple minor anomalies, and an interstitial deletion 13q (q13 โ†’ q22). This child and a si