Background The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies. Methods We studied 70 homozygous, compound heterozygous or heterozygous for CFTR ...

1 Department of Public Health and Primary Care, University Forvie Site, Robinson Way, Cambridge CB2 2SR, UK 2 Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC ...

Background: Metabolic syndrome (MetS) is defined by a combination of abnormalities that are all individual risk factors for the development of type 2 diabetes and/or cardiovascular disease. The ...

Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are ...

3 NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology ...

Purpose Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is ...

Correspondence to Professor Angela T Morgan, Speech and Language, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia; angela.morgan{at}mcri.edu.au Background Heterozygous ...

1 Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China Correspondence to Yulan Lu, Children's Hospital & ...

3 Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, New South Wales, Australia ...

Background: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. Methods: This study aimed to identify the mutation present in four unrelated ...

*Unit on Genetics and Endocrinology (UGEN), Developmental Endocrinology Branch, (DEB), National Institute of Child Health and Human Development (NICHD), Building 10, Room 10N262, 10 Center Drive, ...