Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome

Background: Kabuki (Niikawa–Kuroki) syndrome comprises a characteristic facial appearance, cleft palate, congenital heart disease, and developmental delay. Various cytogenetically visible chromosomal rearrangements have been reported in single cases, but the molecular genetic basis of the condition...

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Bibliografiset tiedot
Päätekijät: Hoffman, J, Zhang, Y, Greshock, J, Ciprero, K, Emanuel, B, Zackai, E, Weber, B, Ming, J
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 2005
Aiheet:
Short Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735911/
https://ncbi.nlm.nih.gov/pubmed/15635075
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.024372
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