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 ...

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 ...

The approach should be individualized to each patient, says Dr. David Charytan of the NYU Grossman School of Medicine. Here's why. (3:28) Before receiving a kidney transplant, patients with autosomal ...

Nearly everyone — with rare exceptions — is born with 23 pairs of chromosomes that were passed down from parents through combinations of their 46 chromosomes. X and Y, the two most popularly known ...

In a previous trial involving patients with early autosomal dominant polycystic kidney disease (ADPKD; estimated creatinine clearance, ≥60 ml per minute), the vasopressin V 2-receptor antagonist ...

Please provide your email address to receive an email when new articles are posted on . Infection rates stayed within International Society for Peritoneal Dialysis guideline thresholds during the ...

According to Science Alert, neuroscientists from Johns Hopkins University have recently discovered a new treatment for Parkinson's disease using an FDA-approved cancer drug. A recent study published ...