Chromosome Rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in Two Half Sibs With Features of CdLS and Review of Reported CdLS Cases With Chromosome Rearrangements

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 ~50% of individuals with CdLS. Numerous chromosomal rearrange...

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Vydáno v:Am J Med Genet A
Hlavní autoři: DeScipio, Cheryl, Kaur, Maninder, Yaeger, Dinah, Innis, Jeffrey W., Spinner, Nancy B., Jackson, Laird G., Krantz, Ian D.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2005
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4896149/
https://ncbi.nlm.nih.gov/pubmed/16075459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.30857
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