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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Bibliografische gegevens
Hoofdauteurs: Wierzba, Jolanta, Gil-Rodríguez, María Concepción, Polucha, Anna, Puisac, Beatriz, Arnedo, María, Teresa-Rodrigo, María Esperanza, Winnicka, Dorota, Hegardt, Fausto G, Ramos, Feliciano J, Limon, Janusz, Pié, Juan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2012
Onderwerpen:
Case Report
Online toegang: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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