Families underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used ...

A team of 10 U.S.-based investigators delved deeper into how autosomal dominant polycystic kidney disease affects patients’ health-related quality of life and pain levels. Here’s what they found.

U.S.-based researchers examined the burden of imaging in a population of patients with ADPKD, versus that of patients with chronic kidney disease (CKD). People with ADPKD underwent more abdominal ...

Purpose We describe a mother and all her offspring with congenital superior oblique palsy (CSOP), and a father and all his sons with unilateral CSOP. We discuss the inheritance pattern in our ...

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

Please provide your email address to receive an email when new articles are posted on . Patients with poor baseline autosomal dominant polycystic kidney disease scores were more likely to experience ...