Cargando…
Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature
Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review the previous literature reports. Common clinical features include encephalopathy, hypotonia, developme...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935653/ https://www.ncbi.nlm.nih.gov/pubmed/31893048 http://dx.doi.org/10.1002/ccr3.2403 |