- Article
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
- Beatriz Puisac,
- María-Esperanza Teresa-Rodrigo,
- María Hernández-Marcos,
- Carolina Baquero-Montoya,
- María-Concepción Gil-Rodríguez,
- Torkild Visnes,
- Christopher Bot,
- Paulino Gómez-Puertas,
- Frank J. Kaiser and
- Juan Pié
- + 2 authors
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 patho...