15
Aug
Phenotypic Variability in Phelan–McDermid Syndrome and Its Putative Link to Environmental Factors
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Phelan-McDermid Syndrome phenotypic variability and its link to environmental factors. Phelan-McDermid Syndrome (PMS) is categorized by different genetic abnormalities in the SHANK3 gene, chromosomal rearrangements and/or deletion at 22q13. The size of deletion may vary from 100 Kb to over 9 Mb and large deletions may involve many additional genes.... Read More
15
Aug
CDO Summer 2022 Newsletter now available!
Chromosome Disorder Outreach’s Summer 2022 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 2022 issue here. Questions, comments or to submit an article for an upcoming issue contact info@chromodisorder.org