29
Jul
Phelan-McDermid syndrome and new treatment medications
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Phelan-McDermid syndrome new treatments may improve some patients’ symptoms – more research necessary. Phelan-McDermid syndrome (PMS) is a disorder caused by deletions of the distal segment of 22q (22q13.3). The main factor in this condition is haploinsufficiency of the SHANK3 gene located at this segment. Mutations of this gene produce... Read More
07
Nov
Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
Phelan-McDermid Syndrome (PMS), also known as 22q13 Deletion Syndrome, is a rare genetic disorder caused by deletions in the 22q13.3 region involving the SHANK3 gene, Sometimes mutations in the SHANK3 gene may produce the same condition. Clinical features in patients broadly vary and include global developmental delay, intellectual disability... Read More
