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

• Main Authors: Wierzba Jolanta (Author), Gil-Rodríguez María (Author), Polucha Anna (Author), Puisac Beatriz (Author), Arnedo María (Author), Teresa-Rodrigo María (Author), Winnicka Dorota (Author), Hegardt Fausto G (Author), Ramos Feliciano J (Author), Limon Janusz (Author), Pié Juan (Author)
• Format: Book
• Published: BMC, 2012-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...