As of 1 January 2025, the Journal of Medical Genetics (JMG) has become the official journal of the British Society for Genetic Medicine (BSGM), an exciting new partnership will strengthen the exchange ...

Correspondence to Dr Marie Louise Mølgaard Binderup, Department of Cellular and Molecular Medicine, University of Copenhagen, The Panum Institute 24.4, Blegdamsvej 3, Copenhagen N 2200, Denmark; ...

History The Smith-Lemli-Opitz syndrome was first described in 1964 by the late David Smith, the Belgian paediatrician Luc Lemli, and John Opitz 1 in a report of three patients who had in common a ...

1 Osteoporosis Research Center, Creighton University, Omaha, NE 68131, USA 2 Department of Biomedical Sciences, Creighton University, Omaha, NE 68131, USA 3 Laboratory of Molecular and Statistical ...

2 International Institute of Molecular and Cell Biology, Warsaw, Poland Correspondence to Dr Małgorzata Kurkowiak, Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish ...

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Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA Correspondence to: Dr V P Sybert, Box 356524, Division of Dermatology, University of Washington School of Medicine ...

Background Studies indicate that variants of uncertain significance are more common in non-European populations due to lack of a diversity in population databases. This difference has not been ...

Background Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis ...

Correspondence to Dr Adriana M Montaño, Doisy Research Center, Department of Pediatrics, Saint Louis University, 1100 South Grand Blvd., Room 311, St. Louis, MO 63104, USA; montana{at}slu.edu ...

The study of patients with rare multiple congenital anomaly syndromes can provide illuminating insights into normal development and the pathogenesis of congenital anomalies. The GLI3 gene is a ...

2 Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA 3 Hearing Section, National Institute on Deafness and ...