Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA

Documenti analoghi

• Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
  di: Shimojima, Keiko, et al.
  Pubblicazione: (2018)
• Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
  di: Lalani, Seema R., et al.
  Pubblicazione: (2014)
• Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report
  di: Bejjani Bassem A, et al.
  Pubblicazione: (2009-01-01)
• Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report
  di: Haj, Roland, et al.
  Pubblicazione: (2009)
• A novel insertion ins(18;5)(q21.1;q31.2q35.1) in acute myeloid leukemia associated with microdeletions at 5q31.2, 5q35.1q35.2 and 18q12.3q21.1 detected by oligobased array comparative genomic hybridization
  di: Kjeldsen, Eigil
  Pubblicazione: (2014)