Background Targeted cystic fibrosis (CF) carrier screening panels may lack sensitivity in non-European ancestry groups. This study aims to evaluate the sensitivity of various panels in Australian CF ...

Introduction Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal ...

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 ...

We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, ...

1 Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, California, USA 2 Department of Pediatrics, University of California Davis, School ...

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 ...

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 ...

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 ...

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 ...

Correspondence to Dr Minna Männikkö, Northern Finland Birth Cohort Studies, Faculty of Medicine, Aapistie 5 / P.O. Box 5000, 90014 University of Oulu, Finland; minna.ruddock{at}oulu.fi Background Low ...

METHODS A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination. RESULTS ...

Background Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the ‘molar tooth sign’. Over 40 JS-associated genes are known, accounting ...