Tag

chromosome disorder

29
Jun

CDO Summer 2023 Newsletter

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Chromosome Disorder Outreach’s Summer 2023 Newsletter now available! The CDO newsletter includes a family spotlight, additional resources, media corner, Ask the Doctor and new research updates. Download a copy of the Summer issue here. Questions, comments or to submit an article for an upcoming issue contact info@chromodisorder.org
01
Nov

Potocki-Lupski Syndrome (PTLS)

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Potocki-Lupski Syndrome (PTLS) is a disorder caused by a duplication of the 17p11.2 region of chromosome 17, including the RAI1 (Retinoic acid-induced protein 1) gene. Duplication of the RAI1 gene in particular is thought to be the key contributor to the symptoms of this disorder. These symptoms are vast and...
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