A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient
Abstract 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...
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2017-06-01
|
Series: | Molecular Cytogenetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13039-017-0324-6 |