Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing

Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family with CdLS carrying a novel pathogenic variant of the SMC1A gene identified by exome sequencing. The pro...

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Detalles Bibliográficos
Autores principales: Jang, Mi-Ae, Lee, Chang-Woo, Kim, Jin-Kyung, Ki, Chang-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2015
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4579110/
https://www.ncbi.nlm.nih.gov/pubmed/26354354
http://dx.doi.org/10.3343/alm.2015.35.6.639

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4579110/
https://www.ncbi.nlm.nih.gov/pubmed/26354354
http://dx.doi.org/10.3343/alm.2015.35.6.639

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