mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the NIPBL gene, of which two is...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Puisac, Beatriz, Teresa-Rodrigo, María-Esperanza, Hernández-Marcos, María, Baquero-Montoya, Carolina, Gil-Rodríguez, María-Concepción, Visnes, Torkild, Bot, Christopher, Gómez-Puertas, Paulino, Kaiser, Frank J., Ramos, Feliciano J., Ström, Lena, Pié, Juan
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5372497/
https://ncbi.nlm.nih.gov/pubmed/28241484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18030481
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