𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

✍ Scribed by Magdalena Ratajska; Jolanta Wierzba; Davut Pehlivan; Zhilian Xia; Ellen K. Brundage; Sau Wai Cheung; Pawel Stankiewicz; James R. Lupski; Janusz Limon


Book ID
116433299
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
507 KB
Volume
53
Category
Article
ISSN
1769-7212

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Father-to-daughter transmission of Corne
✍ Guntram Borck; Mohamed Zarhrate; CΓ©line Cluzeau; Elodie Bal; Jean-Paul Bonnefont πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 246 KB

Cornelia de Lange syndrome (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and mental retardation, microcephaly, and various malformations. Mutations in the NIPBL gene have been identified in approximately 40% of reporte

Incidence and clinical features of X-lin
✍ Guntram Borck; Mohamed Zarhrate; Jean-Paul Bonnefont; Arnold Munnich; ValΓ©rie Co πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 91 KB

Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphism, growth and mental retardation, microcephaly, and various malformations. Heterozygous mutations in the NIPBL gene have been detected in approximately 45% of affected individuals. Recently, a