- Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
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Park KH, Lee ST, Ki CS, Byun SY
- KMID: 1792912
- J Korean Med Sci.
- 2010 Dec;25(12):1821-1823.
- doi: 10.3346/jkms.2010.25.12.1821
Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly characterized by distinctive facial features, upper limb malformations, growth and cognitive retardation. The diagnosis of the syndrome is based on... -
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- Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing
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Jang MA, Lee CW, Kim JK, Ki CS
- KMID: 2363269
- Ann Lab Med.
- 2015 Nov;35(6):639-642.
- doi: 10.3343/alm.2015.35.6.639
Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family... -
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