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...

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Detalles Bibliográficos
Autores principales: Simon, Julie, Stoll, Katie, Fick, Roger, Mott, Jared, Lawson‐Yuen, Amy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
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

Internet

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

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