## Abstract Cornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (__NIPBL__, __SMC1A__, and __SMC3__) of the cohesin complex and its regulators have been found in affected patients. Here, we present
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
β Scribed by A Selicorni; S Russo; C Gervasini; P Castronovo; D Milani; F Cavalleri; A Bentivegna; M Masciadri; A Domi; MT Divizia; C Sforzini; E Tarantino; L Memo; G Scarano; L Larizza
- Book ID
- 110888426
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 412 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0009-9163
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## 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
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