RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

Introduction: Primary ciliary dyskinesia (PCD) is a rare disease classically transmitted as an autosomal recessive trait and characterised by recurrent airway infections due to abnormal ciliary structure and function. To date, only two autosomal genes, DNAI1 and DNAH5 encoding axonemal dynein chains...

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Bibliographic Details
Published in:	Journal of medical genetics Vol. 43; no. 4; pp. 326 - 333
Main Authors:	Moore, A, Escudier, E, Roger, G, Tamalet, A, Pelosse, B, Marlin, S, Clément, A, Geremek, M, Delaisi, B, Bridoux, A-M, Coste, A, Witt, M, Duriez, B, Amselem, S
Format:	Journal Article
Language:	English
Published:	London BMJ Publishing Group Ltd 01-04-2006 BMJ BMJ Publishing Group LTD BMJ Publishing Group BMJ Group
Subjects:	Adolescent Adult Biological and medical sciences Cardiology. Vascular system Cilia Cilia - physiology Cilia - ultrastructure DNA Mutational Analysis Dyskinesia Eye Proteins Eye Proteins - genetics Families & family life Female General aspects. Genetic counseling Genes Genetic Diseases, X-Linked Genetic Diseases, X-Linked - diagnosis Genetic Diseases, X-Linked - genetics Genetics Genotype Genotype & phenotype Human genetics Human health and pathology Humans IFT intraflagellar transport Kartagener Syndrome Kartagener Syndrome - complications Kartagener Syndrome - diagnosis Kartagener Syndrome - genetics Life Sciences Male Medical genetics Medical sciences Microsatellite Repeats Mutation Nervous system (semeiology, syndromes) Nervous system as a whole Neurology ODA Original outer dynein arms Patients PCD Pedigree Phenotype primary ciliary dyskinesia PTA Pulmonology and respiratory tract pure tone audiometry Respiratory Mucosa Respiratory Mucosa - ultrastructure Retinitis Pigmentosa Retinitis Pigmentosa - complications Retinitis Pigmentosa - diagnosis Retinitis Pigmentosa - genetics RPGR Sensory Organs Sinusitis Thoracic surgery X linked primary ciliary dyskinesia X linked retinitis pigmentosa XLRP Human Sex linked character Nervous system diseases Retinopathy Retinitis pigmentosa Patient Complexes Cerebral disorder Involuntary movement Genetic disease Eye disease Phenotype Central nervous system disease Genetics X-Chromosome Neurological disorder Extrapyramidal syndrome Dyskinesia
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