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 ...

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 Hereditary haemorrhagic telangiectasia (HHT) is an inherited disorder of vascular malformations. It is caused by inherited loss-of-function mutations in one of three genes, ENG, ACVRL1 or ...

Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with ...

Background We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay. Methods In 400 ...

Correspondence to Dr Philip A J Crosbie, Manchester Thoracic Oncology Centre, North West Lung Centre, Manchester University NHS Foundation Trust, Wythenshawe M23 9LT, UK; ...

1 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia 2 Department of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud ...

Correspondence to Dr Alexander E Urban, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA; aeurban{at}stanford.edu Background Copy ...

Background The findings of variants of uncertain significance (VUS) on a clinical genetic testing report pose a challenge for attending healthcare professionals (HCPs) in patient care. Here, we ...

1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 2 Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA 3 Texas Children’s Hospital, Houston ...

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 ...

Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...