## 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
β¦ LIBER β¦
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature
β Scribed by Samantha A. Schrier; Ilana Sherer; Matthew A. Deardorff; Dinah Clark; Lynn Audette; Lynette Gillis; Antonie D. Kline; Linda Ernst; Kathleen Loomes; Ian D. Krantz; Laird G. Jackson
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 271 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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## Abstract Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in __NIPBL__ have been found in βΌ50% of individuals with CdLS. Numerous chro
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