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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Hum Genome Var
Main Authors: Sangu, Noriko, Okamoto, Nobuhiko, Shimojima, Keiko, Ondo, Yumiko, Nishikawa, Masanori, Yamamoto, Toshiyuki
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2016
Assuntos:
Data Report
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares