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One Genetic Variant – 52 Patients

Mimi Tin-Yan Seto et al.
November 09, 2020

Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature

Schuurs-Hoeijmakers syndrome is one of the few inherited disorders that have been associated with only a single genetic variant. A recent study describes 16 pertinent patients, most of whom were identified by CENTOGENE. This significant extension of the knowledge around Schuurs-Hoeijmakers syndrome was published in the American Journal of Medical Genetics.