Correspondence to: Dr Virginia Nunes Centre de Genética Mèdica i Molecular (IRO-IDIBELL), Hospital Duran i Reynals, Gran Via Km 2.7, s/n, L’Hospitalet de Llobregat, Barcelona E-08907, Spain; vnunesiro ...

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Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a ...

Correspondence to Dr Katharina Wimmer, Medical University of Innsbruck, Division of Human Genetics, Peter-Mayr-Strasse 1, Innsbruck 6020, Austria; katharina.wimmer{at}i-med.ac.at Due to the ...

Correspondence to: Prof. J Poulton Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK; joanna.poultonobstetrics-gynaecology.oxford.ac.uk ...

Background Two recombinant enzymes (agalsidase alfa 0.2 mg/kg/every other week and agalsidase beta 1.0 mg/kg/every other week) have been registered for the treatment of Fabry disease (FD), at equal ...

The simultaneous occurrence of familial neurofibromatosis type 1 (NF1) and an overgrowth syndrome resembling Weaver syndrome was observed in two related cases (a mother and her son). NF1 was confirmed ...

Objective: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 ...

6 Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada Correspondence to Dr Kym Boycott, Department of Genetics, Children's Hospital of Eastern Ontario Research ...

A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In ...

Correspondence to Dr Rando Allikmets, Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute Research Annex, 635 West 165th Street, Box # 28, New York, NY 10032, USA; rla22 ...

Background Deletions removing 100s–1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, ...