Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21) or...

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Bibliographic Details
Main Authors: María E. Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Andreas Dalski, María C. Gil-Rodríguez, Diana Braunholz, Carolina Baquero, María Hernández-Marcos, Juan C. de Karam, Milagros Ciero, Fernando Santos-Simarro, Pablo Lapunzina, Jolanta Wierzba, César H. Casale, Feliciano J. Ramos, Gabriele Gillessen-Kaesbach, Frank J. Kaiser, Juan Pié
Format: Article
Language:English
Published: MDPI AG 2014-06-01
Series:International Journal of Molecular Sciences
Subjects:
CdLS
NIPBL
splicing mutations
physiological splicing
Online Access:http://www.mdpi.com/1422-0067/15/6/10350

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http://www.mdpi.com/1422-0067/15/6/10350

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