Cornelia de Lange syndrome with <it>NIPBL</it> mutation and mosaic Turner syndrome in the same individual

Cornelia de Lange syndrome with <it>NIPBL</it> mutation and mosaic Turner syndrome in the same individual

<p>Abstract</p> <p>Background</p> <p>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 <it>NIPBL</it> gen...

Full description

Bibliographic Details
Main Authors: Wierzba Jolanta, Gil-Rodríguez María, Polucha Anna, Puisac Beatriz, Arnedo María, Teresa-Rodrigo María, Winnicka Dorota, Hegardt Fausto G, Ramos Feliciano J, Limon Janusz, Pié Juan
Format: Article
Language:English
Published: BMC 2012-06-01
Series:BMC Medical Genetics
Subjects:
Cornelia de Lange syndrome
CdLS
<it>NIPBL</it>
Turner syndrome
TS
Monosomy X mosaicism
Mosaic 45,X/46,XX karyotype
Online Access:http://www.biomedcentral.com/1471-2350/13/43

Internet

http://www.biomedcentral.com/1471-2350/13/43

Similar Items