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disease > diseases of the osteoarticular system > Potocki-Shaffer syndrome
disease > developmental disorder > mental retardation > Potocki-Shaffer syndrome
disease > disability > mental retardation > Potocki-Shaffer syndrome

Preferred term

Potocki-Shaffer syndrome  

Definition

  • Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, is a rare contiguous gene syndrome that results from the microdeletion of section 11.2 on the short arm of chromosome 11 (11p11.2). (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-N94GDJ9N-5

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