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 ...

Correspondence to Dr Wendy Chung, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; wkc15{at}cumc.columbia.edu Background SLC6A1 encodes GAT-1, a major ...

Correspondence to Professor Orly Elpeleg, Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Elpeleg{at}hadassah.org.il The ...

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 6500–017, Japan Dr M Matsuo, Department of Pediatrics, Kobe University Graduate School of Medicine, 75–-1 Kusunokicho, Chuo, ...

2 St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK 3 Department of Dermatology, Great Ormond Street Hospital NHS Trust, London, UK 4 The Robin Eady National ...

A search for patterns of malformation in the brachydactylies has resulted in new ways to identify the different types. Type A-1 can be characterised by a proportionate reduction of the middle ...

1 Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children’s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK 2 Merseyside and Cheshire Molecular Genetics Laboratory, ...

Correspondence to: Dr A Sharp, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK; asharp{at}hgmp.mrc.ac.uk We report on a 4 year old girl with a de ...

1 University of Padova, Department of Medical and Surgical Sciences, Clinica Medica 3, Centre for Male Gamete Cryopreservation, Via Ospedale 105, 35128 Padova, Italy 2 University of Roma “La Sapienza” ...

Correspondence to Professor Diego A Forero, Laboratory of Neuropsychiatric Genetics, Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño, Bogotá, 110231, Colombia; diego ...

Correspondence to: Dr S Mansour, South-West Thames Regional Genetic Service, St George’s Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, UK; smansour{at}sghms.ac.uk Five patients ...

Neonatal haemochromatosis (NH) is a severe and newly recognised syndrome of uncertain aetiology, characterised by congenital cirrhosis or fulminant hepatitis and widespread tissue iron deposition. NH ...