Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, E...

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Detalles Bibliográficos
Autores principales: Tam, Allison, Lee, Kit Shan, Lee, Sansan, Burkhalter, William, Pascua, Lucio U., Slavin, Thomas P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3713326/
https://www.ncbi.nlm.nih.gov/pubmed/23936691
http://dx.doi.org/10.1155/2013/149085

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3713326/
https://www.ncbi.nlm.nih.gov/pubmed/23936691
http://dx.doi.org/10.1155/2013/149085

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