Article
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Nature genetics - 1 Jun 2004
Krantz Ian D, McCallum Jennifer, DeScipio Cheryl, Kaur Maninder, Gillis Lynette A, Yaeger Dinah, Jukofsky Lori, Wasserman Nora, Bottani Armand, Morris Colleen A, Nowaczyk Malgorzata J M, Toriello Helga, Bamshad Michael J, Carey John C, Rappaport Eric, Kawauchi Shimako, Lander Arthur D, Calof Anne L, Li Hui-Hua, Devoto Marcella, Jackson Laird G
Abstract excerpt
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...
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