Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report

BACKGROUND: Cornelia de Lange syndrome is characterized by dysmorphic facial features, hirsutism, severe growth and developmental delay. Germline mutations in the NIPBL gene with an autosomal dominant pattern and in the SMC1A gene with an X-linked pattern have been identified in Cornelia de Lange sy...

Descripción completa

Detalles Bibliográficos
Autores principales: Galehdari, Hamid, Monajemzadeh, Roya, Nazem, Habibolah, Mohamadian, Gholamreza, Pedram, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3138439/
https://www.ncbi.nlm.nih.gov/pubmed/21707975
http://dx.doi.org/10.1186/1752-1947-5-242

Ejemplares similares

Ejemplares similares