We begin 2025 by looking back at the contribution of Charis Eng, a distinguished cancer geneticist and former North American editor of the Journal of Medical Genetics ( JMG ). In this …

In 2005, the genetic aetiology of autism was considered elusive. Occasionally individuals with overgrowth disorders and hamartomas including Bannayan-Riley-Ruvalcaba and Proteus or …

2 天之前 · Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest …

Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. …

Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments.

Results The mean age of CRB1 cohort was 27.33±14.63 years. Results showed that yellowish geographic macular degeneration (66.67%), small white or yellow dots (65.6%), hyperopia …

Prostate cancer (PrCa) is a largely heritable and polygenic disease. It is the most common cancer in people with prostates (PwPs) in Europe and the USA, including in PwPs of African descent. …

Background The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile …

Inbreeding has been shown in almost all species to be associated with impairment of function because of homozygosity of recessive alleles. This occurs across a wide range of traits and …

Hereditary haemochromatosis is the most common genetic disorder in white people. Its prevalence exceeds the combined incidence of cystic fibrosis, muscular dystrophia, and …