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321 Congenital heart defects in CHARGE syndrome patients with CHD7 mutations

✍ Scribed by Pauline Parisot; Fanny Bajolle; Tania Attié-Bittach; Sophie Thomas; Géraldine Goudefroye; Véronique Abadie; Stanislas Lyonnet; Damien Bonnet


Book ID
119641248
Publisher
Elsevier
Year
2010
Tongue
English
Weight
99 KB
Volume
2
Category
Article
ISSN
1878-6480

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Jagged1 mutations in patients ascertaine
✍ Krantz, Ian D.; Smith, Rosemarie; Colliton, Ray P.; Tinkel, Hilary; Zackai, Elai 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 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