Načítá se...

Mutation Spectrum and Genotype–Phenotype Correlation in Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous developmental disorder. Clinical features include growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. The increased understanding of the genetic basis of...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Mannini, Linda, Cucco, Francesco, Quarantotti, Valentina, Krantz, Ian D., Musio, Antonio
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3880228/
https://ncbi.nlm.nih.gov/pubmed/24038889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22430
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!