Cornelia De Lange Syndrome with Additional Clinical Features and Multicystic Kidney Disease
✍ Scribed by Jaiprakash Narayan Meghwal, Achala Arya, B. S. Karnawat…
- Book ID
- 120902641
- Publisher
- Springer-Verlag
- Year
- 2013
- Tongue
- English
- Weight
- 93 KB
- Volume
- 81
- Category
- Article
- ISSN
- 0019-5456
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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
## Abstract Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, microcephaly and limb abnormalities. Currently mutations of three different genes, __NIP