Population genomic screening for desmosome variants associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) may facilitate early disease detection and protective intervention. The ...

Objective: This study aims to summarize the diagnostic and treatment experience of a case of Hypoparathyroidism-Sensorineural Hearing Loss-Renal Dysplasia (HDR) syndrome caused by a heterozygous ...

Hip dysplasia is when the ball and socket of your hip joint don’t fit together as they should. Usually, the ball-shaped end of your upper thigh bone (femur) fits neatly into a socket in your pelvis ...

What are frontonasal dysplasia, craniofrontonasal dysplasia and Tessier clefts? Frontonasal dysplasia is a condition that causes a cleft in a patient’s nose and abnormal widening between the eyes ...