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.