De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia, and Autism

Παρόμοια τεκμήρια

• De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
  ανά: Berko, Esther R, κ.ά.
  Έκδοση: (2016)
• Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability
  ανά: Steinrücke, Sofia, κ.ά.
  Έκδοση: (2016)
• De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease
  ανά: Ma, Lijiang, κ.ά.
  Έκδοση: (2016)
• A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
  ανά: Alhamoudi, Kheloud M., κ.ά.
  Έκδοση: (2020)
• A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
  ανά: Ueno, Yuichi, κ.ά.
  Έκδοση: (2019)