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NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

The Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphia, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. Both missense and protein-truncating mutations in NIPBL,...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Gillis, Lynette A., McCallum, Jennifer, Kaur, Maninder, DeScipio, Cheryl, Yaeger, Dinah, Mariani, Allison, Kline, Antonie D., Li, Hui-hua, Devoto, Marcella, Jackson, Laird G., Krantz, Ian D.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The American Society of Human Genetics 2004
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182048/
https://ncbi.nlm.nih.gov/pubmed/15318302
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