Deletion Syndrome 22q11.2: A Systematic Review

• मुख्य लेखकों: Jonathan Cortés-Martín (लेखक), Nuria López Peñuela (लेखक), Juan Carlos Sánchez-García (लेखक), Maria Montiel-Troya (लेखक), Lourdes Díaz-Rodríguez (लेखक), Raquel Rodríguez-Blanque (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2022-08-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calc...