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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Hum Genome Var
Hauptverfasser: Sangu, Noriko, Okamoto, Nobuhiko, Shimojima, Keiko, Ondo, Yumiko, Nishikawa, Masanori, Yamamoto, Toshiyuki
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2016
Schlagworte:
Data Report
Online Zugang: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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