Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6138
Abstract: Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of… read more here.
Keywords: novel mutation; raine syndrome; mutation review; syndrome report ... See more keywords