We identified a large family segregating an uncomplicated and early onset form of HSP. Exome sequencing revealed homozygosity for a novel ATL1 missense variant in the six affected family members, ...

Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

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 ...

Terms like "autosomal recessive" and "dominant" are frequently tossed around, and you've probably heard them. But what does any of that really mean regarding the traits that children inherit from ...

"Groups such as the American College of Medical Genetics and Genomics can use this study to help determine whether PKD1 and PKD2 should be considered in future recommendations for reporting of ...

Retinitis pigmentosa is one of the commonest forms of inherited retina degenerative blindness worldwide. With the advent of molecular technologies it has become easier to identify the genetic defects ...

This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they ...

Autosomal dominant optic atrophy (ADOA) is the most common dominantly inherited optic neuropathy, triggering the specific loss of retinal ganglion cells (RGCs). ADOA is clinically characterized by ...

Amanda MacMillan is a health and science writer and editor. Her work appears across brands like Health, Prevention, SELF, O Magazine, Travel + Leisure, Time Out New York, and National Geographic's The ...

The course of autosomal dominant polycystic kidney disease (ADPKD) is often associated with pain, hypertension, and kidney failure. Preclinical studies indicated that vasopressin V 2-receptor ...