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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Case Report
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars