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  1. Joining Forces to Understand Ultra-Rare Disorders

Joining Forces to Understand Ultra-Rare Disorders

Theresa Brunet et al.
November 11, 2020

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.