Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

Autosomal recessive Adams–Oliver syndrome was diagnosed in three remotely related Bedouin consanguineous families. Genome-wide linkage analysis ruled out association with known Adams–Oliver syndrome genes, identifying a single-homozygosity ∼1.8-Mb novel locus common to affected individuals (LOD scor...

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Bibliografiska uppgifter
Huvudupphovsmän: Cohen, Idan, Silberstein, Eldad, Perez, Yonatan, Landau, Daniella, Elbedour, Khalil, Langer, Yshaia, Kadir, Rotem, Volodarsky, Michael, Sivan, Sara, Narkis, Ginat, Birk, Ohad S
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2014
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3925282/
https://ncbi.nlm.nih.gov/pubmed/23860037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.159
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