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...

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Bibliografski detalji
Izdano u:Hum Genome Var
Glavni autori: Sangu, Noriko, Okamoto, Nobuhiko, Shimojima, Keiko, Ondo, Yumiko, Nishikawa, Masanori, Yamamoto, Toshiyuki
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
Teme:
Data Report
Online pristup: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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