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Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement. Mutations in NIPBL gene account for about 60% of patients with CdLS. This gene encodes a key regul...
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| Autori principali: | , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2012
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3458943/ https://ncbi.nlm.nih.gov/pubmed/22676896 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-43 |
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