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22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
58234 Ensembl ENSG00000251322 ENSMUSG00000022623 UniProt Q9BYB0 Q4ACU6 RefSeq (mRNA) NM_001080420 NM_001372044 NM_021423 RefSeq (protein) NP_277052 NP_067398 Location (UCSC) Chr 22: 50.67 – 50.73 Mb Chr 15: 89.38 – 89.44 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse SH3 and multiple ankyrin repeat domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 ...
NNZ-2591 is a synthetic analog of cyclic glycine-proline and experimental drug developed for Angelman syndrome, Phelan-McDermid syndrome, Pitt Hopkins syndrome, [1] [2] and Prader-Willi syndrome. [ 3 ]
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Buxbaum is also, along with Simon Baron-Cohen, the co-editor of the BioMed Central journal Molecular Autism, and is a member of the scientific advisory board of the Autism Science Foundation. Buxbaum is a Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences. [ 2 ]
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