1 Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA 2 ...

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 Pediatrics, Wayne State University, Detroit, MI 48201, USA 2 Department of Neurology, Wayne State University, Detroit, MI 48201, USA Correspondence to: Dr A H M Mahbubul Huq, Division ...

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 ...

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 ...

4 Department of Pediatrics, Korea University College of Medicine, Seoul, Korea Correspondence to Dr Si Houn Hahn, Department of Pediatrics, University of Washington School of Medicine, Seattle ...

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 ...