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Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome

✍ Scribed by Bhuiyan, Zahurul A; Stewart, Helen; Redeker, Egbert J; Mannens, Marcel M A M; Hennekam, Raoul C M

Book ID: 110026877
Publisher: Nature Publishing Group
Year: 2007
Tongue: English
Weight: 129 KB
Volume: 15
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5201776

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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