Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Correspondence to: Dr Anne Lampe Institute of Human Genetics, University of Newcastle upon Tyne, International ...

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 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 ...

2 Genetic Institute, Emek Medical Center, Rappaport School of Medicine, Technion, Haifa, Israel Background Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial ...

Initial reports of patients with laminin α2 chain (merosin) deficiency had a relatively homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by severe muscle ...

Correspondence to Prof. Pei-Rong Ding, Department of Colorectal Surgery, Sun Yat-sen University Cancer Center, Guangzhou, China; dingpr{at}sysucc.org.cn; Prof. Zhi-Zhong Pan, Department of Colorectal ...

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...

Correspondence to Professor Eva Brand, Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology and Interdisciplinary Fabry Center Münster (IFAZ), University Hospital Münster, ...

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 ...

Correspondence to Dr Malte Lenders, Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, University Hospital Muenster, Muenster D-48149, Germany; ...

Correspondence to R F Kooy, Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium; Frank.Kooy{at}ua.ac.be Fragile X syndrome, the main cause of inherited ...

Sub-Department of Endocrine Pathology, Alder Hey Hospital, Liverpool. A 20 year old male patient presented with lack of sexual development. On examination he was eunuchoidal and hypogonadal, and ...