Nevado, Julián; Pérez Jurado, Luis Alberto; Lapunzina, Pablo Daniel; Spanish PMS Working Group
(Frontiers, 2022)
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for ...