Autistic behavior as novel clinical finding in ofd1 syndrome

HIGHLIGHTS

• who: Sorina Mihaela Papuc and colleagues from the Medical Genetics Laboratory, Victor Babes National Institute of Pathology, Bucharest, Romania Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, Craiova, Romania have published the Article: Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome, in the Journal: Genes 2023, 14, 327. of 27/01/2023
• what: The authors report on three-year-old girl with complex phenotype that includes oral malformations severe speech delay dysmorphic features developmental delay autism and bilateral periventricular nodular heterotopia presenting de novo pathogenic variant in the gene. The authors . . .
  

   

  

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