Welcome to the UPF Digital Repository

Browsing Articles (Hospital del Mar Research Institute) by Subject "22q13 deletion syndrome"

Browsing Articles (Hospital del Mar Research Institute) by Subject "22q13 deletion syndrome"

Sort by: Order: Results:

  • 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 ...

Search DSpace


Advanced Search

Browse

My Account

In collaboration with Compliant to Partaking