Joining Forces to Understand Ultra-Rare Disorders

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Certain genetic disorders are too rare to be investigated in several patients by single centers. Uniform scientific descriptions thus require global collaborations. A pertinent success story, in which >50 partners, including CENTOGENE, joined forces to address an X-linked syndrome, was recently published in Genetics in Medicine.


  • Theresa Brunet
  • et al.