Cardiofaciocutaneous syndrome with rare structural variant in DOCK8 gene associated with neurodevelopmental disorders

Lignende værker

• Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report
  af: Dell’Edera, Domenico, et al.
  Udgivet: (2021)
• The influence of D-chiro-inositol and D-myo-inositol in pregnant women with glucose intolerance
  af: Dell'Edera, Domenico, et al.
  Udgivet: (2017)
• Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms and susceptibility to recurrent pregnancy loss
  af: Dell'Edera, Domenico, et al.
  Udgivet: (2018)
• Genotype–Phenotype Correlation in a Couple in Which the Wife Is a Carrier of the Beta-Thalassemia Trait and the Husband Is a Carrier of a Mutation in the ALAS2 Gene: Both Gene Defects Are Associated with Non-Iron-Deficiency Microcytic Anemia
  af: Domenico Dell’Edera, et al.
  Udgivet: (2024-12-01)
• Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders
  af: Krgovic, Danijela, et al.
  Udgivet: (2018)