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The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...

1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...

The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm ...

Dr Wallis, Department of Regional Genetics, Birmingham Women’s Hospital, Edgbaston, Birmingham B15 2TG, UK. BACKGROUND/AIMS The development of colorectal cancer and a variable range of extracolonic ...

Correspondence to Professor Tiong Yang Tan, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; tiong.tan{at}vcgs.org.au Background Clinical ...

Background: Li–Fraumeni syndrome is an autosomal dominant cancer predisposition syndrome caused by germline mutations in the TP53 gene. The frequency of germline de novo TP53 mutations is largely ...

8 Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Background Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that ...

1 Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands 2 Department of Paediatrics, Emma Children's Hospital, Academic Medical Centre, ...

Correspondence to Lee-Jun C Wong, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA; ljwong{at}bcm.edu Mitochondria are the ...

Correspondence to Mr Thomas P Potjer, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands; T.P.Potjer{at}lumc.nl Background Pathogenic variants in the CDKN2A ...

Correspondence to Dr Robert J Desnick, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue and 100th Street, Box 1498, New York, NY 10029, USA; ...