07
Nov
Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
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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