Clinical Report: Germline Mosaicism in Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with delayed growth, intellectual disability, limb reduction defects and characteristic facial features. Germline mosaicism has been a described mechanism for CdLS when there are several affected offspring of apparently unaffected pa...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Slavin, Thomas P., Lazebnik, Noam, Clark, Dinah M., Vengoechea, Jaime, Cohen, Leslie, Kaur, Maninder, Konczal, Laura, Crowe, Carol A., Corteville, Jane E., Nowaczyk, Malgorzata J., Byrne, Janice L., Jackson, Laird G., Krantz, Ian D.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2012
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3356507/
https://ncbi.nlm.nih.gov/pubmed/22581668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35381
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