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De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus

BACKGROUND: Van der Woude syndrome is the most common among syndromes which include cleft lip and/or cleft palate as one of the presentations. It is usually caused by mutations in the interferon regulatory factor 6 (IRF6) gene. CASE PRESENTATION: We previously reported on a patient with suspected de...

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Detalhes bibliográficos
Main Authors: Tan, Ene-Choo, Lim, Eileen CP, Lee, Seng-Teik
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3751720/
https://ncbi.nlm.nih.gov/pubmed/23915469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-31
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