Sox11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct dna methylation profile

HIGHLIGHTS

• who: Reem Al-Jawahiri from the (UNIVERSITY) have published the research: SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile, in the Journal: (JOURNAL) of 30/01/2022
• what: The authors report a large series of individuals with SOX11 variants identified via a genotype first approach in large scale exome and genome sequencing studies. The authors report a unique peripheral blood DNA methylation signature as a diagnostic biomarker and phenotypic clustering analysis that distinguishes SOX11 syndrome from BAFopathies.
• future: Future studies focusing on . . .
  

   

  

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