Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

פריטים דומים

• Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
  מאת: Alfadhel, Majid, et al.
  יצא לאור: (2021)
• A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
  מאת: Alhamoudi, Kheloud M., et al.
  יצא לאור: (2020)
• A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy
  מאת: Alhamoudi, Kheloud M., et al.
  יצא לאור: (2021)
• 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
  מאת: Asiri, Abdulaziz, et al.
  יצא לאור: (2021)
• EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
  מאת: Umair, Muhammad, et al.
  יצא לאור: (2020)