1 Oxford Project To Investigate Memory and Ageing, Oxford Centre for Gene Function, University Department of Physiology, Anatomy and Genetics, Oxford, UK 2 Department of Haematology, School of ...

Two unrelated children presenting with mental and physical retardation and sulphur deficient brittle hair are reported. These are thought to be further cases of the autosomal recessive ...

We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal ...

2 Division of Neurology, Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain 3 Division of Neurology, University Hospital Antwerp (UZA), Antwerp, Belgium ...

Genetics Department, Boys Town National Research Hospital, Omaha, NE 68131. Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing ...

aInstitute of Human Genetics, Charité, Campus Virchow-Klinikum, Humboldt-University, Institut für Humangenetik, Chromosomendiagnostik, Molekulare Zytogenetik, Augustenburger Platz 1, D-13353 Berlin, ...

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 ...

Correspondence to Professor D Gareth Evans, Clinical Genetics, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; gareth.evans{at}mft.nhs.uk Objectives Cases of sporadic vestibular ...

Professor B Franco, Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy; franco{at}tigem.it If you wish to reuse any ...

Correspondence to: Dr Marci M Lesperance Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, F6905 Mott, Box 0241, 1500 East Medical Center Drive, Ann Arbor, MI ...

Dr D Craig, Division of Psychiatry and Neuroscience, School of Medicine and Dentistry, Queen’s University Belfast, Whitla Medical Building, 97 Lisburn Road, Belfast BT9 7BL, Northern Ireland; ...