A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient

BACKGROUND: Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with Xq21 deletions has been reported. CASE PRESENTATION: Here we describe a 17-year...

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Detalles Bibliográficos
Autores principales: Liang, Siying, Jiang, Nan, Li, Shuo, Jiang, Xiaohu, Yu, Dongyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471966/
https://www.ncbi.nlm.nih.gov/pubmed/28630650
http://dx.doi.org/10.1186/s13039-017-0324-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471966/
https://www.ncbi.nlm.nih.gov/pubmed/28630650
http://dx.doi.org/10.1186/s13039-017-0324-6

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