16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature

Eitemau Tebyg

• A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features
  gan: Palumbo, Orazio, et al.
  Cyhoeddwyd: (2020)
• 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference
  gan: Trimouille, Aurélien, et al.
  Cyhoeddwyd: (2017)
• Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature
  gan: Dukes-Rimsky, Lynn, et al.
  Cyhoeddwyd: (2011)
• Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)
  gan: Bucerzan, Simona, et al.
  Cyhoeddwyd: (2017)
• A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability
  gan: Benítez, Edmar O., et al.
  Cyhoeddwyd: (2018)