Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder characterised by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. The disease is caused by mutations in genes responsible for the formation and regulation of cohesi...

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Detalles Bibliográficos
Autores principales: Kuzniacka, Alina, Wierzba, Jolanta, Ratajska, Magdalena, Lipska, Beata S., Koczkowska, Magdalena, Malinowska, Monika, Limon, Janusz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2012
Materias:
Human Genetics • Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548104/
https://www.ncbi.nlm.nih.gov/pubmed/23254390
http://dx.doi.org/10.1007/s13353-012-0126-9

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