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4 days ago · 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 …
Clinical and mutational signatures of CRB1-associated …
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 …
Six at Sixty. Commentary on identification of the
In 2005, the genetic aetiology of autism was considered elusive. Occasionally individuals with overgrowth disorders and hamartomas including Bannayan-Riley-Ruvalcaba and Proteus or …
Authors - Journal of Medical Genetics
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. …
Novel HYLS1 variants associated with Joubert syndrome suggest …
Joubert syndrome (JS) is an inherited neurodevelopmental ciliopathy with wide clinical and genetic heterogeneity, whose paradigmatic sign is a peculiar cerebellar and brainstem …
About - Journal of Medical Genetics
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.
Haemochromatosis - Journal of Medical Genetics
Hereditary haemochromatosis is the most common genetic disorder in white people. Its prevalence exceeds the combined incidence of cystic fibrosis, muscular dystrophia, and …
ZFHX3 variants cause childhood partial epilepsy and infantile …
Background The ZFHX3 gene plays vital roles in embryonic development, cell proliferation, neuronal differentiation and neuronal death. This study aims to explore the relationship …
Inbreeding and risk of late onset complex disease
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 …
Christianson syndrome across the lifespan: genetic mutations and ...
Objectives Mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS). Here, in the largest study to date, we examine genetic diversity and clinical …