One Genetic Variant – 52 Patients
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.
- Mimi Tin-Yan Seto
- et al.