Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
β 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
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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
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