Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

Míreanna Comhchosúla

• Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay
  le: Asiri, Abdulaziz, et al.
  Foilsithe: (2020)
• A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
  le: Alhamoudi, Kheloud M., et al.
  Foilsithe: (2020)
• EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
  le: Umair, Muhammad, et al.
  Foilsithe: (2020)
• Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum
  le: Asiri, Abdulaziz, et al.
  Foilsithe: (2021)
• Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia
  le: Alyafee, Yusra, et al.
  Foilsithe: (2021)