1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...

Correspondence to Dr Rosanna Weksberg, Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada; rweksb{at}sickkids.ca and Dr Brian Hon-Yin Chung, Department of ...

Correspondence to Dr Jenny Downs, The University of Western Australia, Perth, WA 6009, Australia; jenny.downs{at}telethonkids.org.au Background Rett syndrome is a genetically caused neurodevelopmental ...

Background The regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and maintenance of cell identity. Hereditary disorders of chromatin ...

Correspondence to Hildegard Kehrer-Sawatzki, Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany; hildegard.kehrer-sawatzki{at}uni-ulm.de Conclusion These ...

Introduction TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent ...

Purpose To explore the molecular basis of familial, early onset, age-related macular degeneration (AMD) with diverse phenotypes, using whole exome sequencing (WES). Methods We performed WES on four ...

Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends ...

Correspondence to Dr Guoan Zhao, The Cardiovascular ResearchCenter of the First Affiliated Hospital of Xinxiang Medical University, Xinxiang City 453003, China; zhaoguoan16{at}126.com Heart failure, ...

Correspondence to Professor Johannes Häberle, Division of Metabolism, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich 8032, Switzerland; Johannes.haeberle{at}kispi.uzh.ch Background ...

Correspondence to: Professor Kate Bushby Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK; ...

Background: Fabry disease is an X linked lysosomal storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A. This leads to accumulation of globotriaosylceramide in nearly all ...