𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A new report of Cornelia de Lange syndrome associated with split hand and feet

✍ Scribed by Chiara Barboni; Anna Cereda; Milena Mariani; Cristina Gervasini; Paola Ajmone; Andrea Biondi; Angelo Selicorni


Book ID
115549438
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
77 KB
Volume
158A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


SMC1A expression and mechanism of pathog
✍ Jinglan Liu; Rachel Feldman; Zhe Zhang; Matthew A. Deardorff; Eden V. Haverfield πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 264 KB

Cornelia de Lange Syndrome (CdLS) is a dominantly inherited heterogeneous genetic disorder with multisystem abnormalities. Sixty percent of probands with CdLS have heterozygous mutations in the Nipped-B-like (NIPBL) gene, 5% have mutations in the SMC1A gene, and one proband was found to have a mutat