Associated Papers
Prenatal Diagnosis of Verheij Syndrome Associated With PUF60 Variants Presented With Ventricular Septal Defect and Scoliosis Identified by First Trimester Ultrasound.
Li R et al.
Prenatal Diagnosis, 2026
A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant.
Mio C et al.
Clinical Case Reports, 2025
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Fennell AP et al.
American Journal of Medical Genetics. Part A, 2022
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