Background Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to GLA variants. Females with Fabry disease often experience ...

Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...

We report a study of 55 subjects with Smith-Magenis syndrome, aged 9 months to 35 years. Each person has been evaluated with an assessment of “gestalt” and detailed facial measurement, using ...

Correspondence to Dr Jennifer M Kalish, Division of Human Genetics, The Children's Hospital of Philadelphia, 1002 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA; kalishj ...

Correspondence to Dr Olivier Duverger, Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA; olivier.duverger{at}nih.gov; Dr ...

An association between the occurrence of club foot and early amniocentesis has been reported. The largest of these randomised studies was the Canadian Early and Mid-Trimester Amniocentesis Trial. Data ...

Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA Correspondence to: Dr V P Sybert, Box 356524, Division of Dermatology, University of Washington School of Medicine ...