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Absence of SIX3 mutations in patients with congenital hypopituitarism

✍ Scribed by Carles Gaston-Massuet; Daniel Kelberman; Mehul Dattani; Juan Pedro Martinez-Barbera


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
74 KB
Volume
149A
Category
Article
ISSN
1552-4825

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Jagged1 mutations in patients ascertaine
✍ Krantz, Ian D.; Smith, Rosemarie; Colliton, Ray P.; Tinkel, Hilary; Zackai, Elai πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 30 KB πŸ‘ 2 views

Mutations in Jagged1 cause Alagille syndrome (AGS), a pleiotropic disorder with involvement of the liver, heart, skeleton, eyes, and facial structures. Cardiac defects are seen in more than 95% of AGS patients. Most commonly these are right-sided defects ranging from mild peripheral pulmonic stenosi