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Letter

Nature Genetics 36, 631–635 (1 June 2004) | doi:10.1038/ng1364

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D Krantz , Jennifer McCallum , Cheryl DeScipio , Maninder Kaur , Lynette A Gillis , Dinah Yaeger , Lori Jukofsky , Nora Wasserman , Armand Bottani , Colleen A Morris , Malgorzata J M Nowaczyk , Helga Toriello , Michael J Bamshad , John C Carey , Eric Rappaport , Shimako Kawauchi , Arthur D Lander , Anne L Calof , Hui-hua Li , Marcella Devoto & Laird G Jackson

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ophthalmologic and genitourinary anomalies; hirsutism; and characteristic facial features. Genital anomalies, pyloric stenosis, congenital diaphragmatic hernias, cardiac septal defects, hearing loss and autistic and self-injurious tendencies also frequently occur.