𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13

✍ Scribed by Shanske, Alan ;Ferreira, Jose C. ;Leonard, Jay C. ;Fuller, Peter ;Marion, Robert W.


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
175 KB
Volume
102
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Retinoblastoma and Hirschsprung disease
✍ Weigel, Brenda J.; Pierpont, Mary Ella M.; Young, Terri L.; Mutchler, Scott B.; πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 23 KB πŸ‘ 2 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 β†’ q22). This child and a si

Novel nonsense mutation of the endotheli
✍ Syrris, Petros; Carter, Nicholas D.; Patton, Michael A. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 2 views

Waardenburg syndrome (WS) comprises sensorineural hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides. Four types of WS have been classified to date; in WS type IV (WS4), patients additionally have colonic aganglionosis (Hirschsprung disease, HSCR). Mutations i