A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene

Microdeletions in the 10q26.1 region are related to intellectual disability, growth delay, microcephaly, distinctive craniofacial features, cardiac defects, genital abnormalities and inner ear abnormalities. The genes responsible for inner ear abnormalities have been narrowed to fibroblast growth fa...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Sangu, Noriko, Okamoto, Nobuhiko, Shimojima, Keiko, Ondo, Yumiko, Nishikawa, Masanori, Yamamoto, Toshiyuki
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2016
Pynciau:
Data Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4871931/
https://ncbi.nlm.nih.gov/pubmed/27274859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.8
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