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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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Détails bibliographiques
Auteurs principaux: Kuzniacka, Alina, Wierzba, Jolanta, Ratajska, Magdalena, Lipska, Beata S., Koczkowska, Magdalena, Malinowska, Monika, Limon, Janusz
Format: Artigo
Langue:Inglês
Publié: Springer-Verlag 2012
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3548104/
https://ncbi.nlm.nih.gov/pubmed/23254390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-012-0126-9
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