An X-linked pattern of transmission observed in four families with familial mental retardation in several generations was associated with a probable secondary constriction at the distal end of the q ...

1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...

September 2024 marks an exciting and important milestone for Journal of Medical Genetics as we celebrate 60 years of publishing!Over the past 6 decades, we have established ourselves as a trusted ...

Canadian College of Medical Geneticists (CCMG) position statement on the storage of patient genetic and genomic information in electronic health records ...

We analysed rare variants in the non-coding RNU4-2 gene as a potential cause of neurodevelopmental disorder (NDD) and intellectual disability (ID) in a large cohort of individuals enriched for ...

Wilms tumour has been reported in association with over 50 different clinical conditions and several abnormal constitutional karyotypes. Conclusive evidence of an increased risk of Wilms tumour exists ...

Strabismus (misalignment of the eyes; also known as “squint”) comprises a common heterogeneous group of disorders characterised by a constant or intermittent ocular deviation often associated with ...

Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...

Background Positron emission tomography-CT (PET-CT) is widely used to diagnose cardiac sarcoidosis (CS). Emerging evidence suggests genetic arrhythmogenic cardiomyopathies (ACMs) may similarly present ...

This May, the World Health Assembly (WHA) will vote on re-establishing a mandate for the WHO to address the health consequences of nuclear weapons and war.1 Health professionals and their associations ...

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Over 15 years have passed since the discovery of the first autoinflammatory gene, MEFV, responsible for familial Mediterranean fever. The identification of another gene, TNFRSF1A, in 1999 led to the ...