Abstract
The acronym RIDDLE for radiosensitivity, immunodeficiency, dysmorphic features and learning difficulties, was first reported as a rare syndrome in 2007. Patients suspected to have this condition were noted to have microcephaly with cognitive delay, ataxia, decreased immunoglobulin levels and respiratory difficulties, with features comparable to Ataxia-Telangiectasia (AT) Syndrome. It was 2 years later that the RING finger protein 168 gene (RNF168), also known as RIDDLIN, was implicated in association with RIDDLE Syndrome.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.