Why are some people unable to hear from birth, even though their inner ear appears intact? One possible cause lies in the ...

Diagnosis of prenatal-onset skeletal dysplasias can be accomplished by ultrasound evaluation and confirmed by both molecular testing using invasive procedures and postdelivery radiographs and autopsy, ...

Tuberous sclerosis complex and von Hippel–Lindau disease are distinct autosomal dominant tumor suppressor syndromes that can exhibit similar renal phenotypes and seem to share some signaling pathway ...