Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

BACKGROUND: A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding genes have been identified to act as tissue specific enhancer elements and were therefore termed exonic enhancers or “eExons”. METHODS: We scree...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Tayebi, Naeimeh, Jamsheer, Aleksander, Flöttmann, Ricarda, Sowinska-Seidler, Anna, Doelken, Sandra C, Oehl-Jaschkowitz, Barbara, Hülsemann, Wiebke, Habenicht, Rolf, Klopocki, Eva, Mundlos, Stefan, Spielmann, Malte
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4237947/
https://ncbi.nlm.nih.gov/pubmed/25231166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0108-6
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