Cartilage–hair hypoplasia

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1	(TO BE CONFIRMED) Molecular Genetics Service Profile Cartilage-Hair Hypoplasia (CHH) Introduction CHH (Metaphyseal Dysplasia type McKusick) (OMIM Nos[removed], 250460, [removed]is an autosomal recessive chondrodysplasia w Add to Reading List Source URL: www.esdn.org Language: English - Date: 2009-03-19 12:03:51 Medical genetics Genetic testing Cartilage–hair hypoplasia Prenatal diagnosis Medicine Genodermatoses Health
2	On Lumpers and Splitters, or the Nosology of Genetic Disease* VICTOR A. MCKUSICK, M.D. Introduction Add to Reading List Source URL: profiles.nlm.nih.gov Language: English - Date: 2008-10-22 10:29:54** Genetics Genodermatoses Channelopathy Genetic disorder Victor A. McKusick Genetic heterogeneity Cartilage–hair hypoplasia Marfan syndrome Hereditary elliptocytosis Health Medicine Syndromes
3	On Lumpers and Splitters, or the Nosology of Genetic Disease* VICTOR A. MCKUSICK, Add to Reading List Source URL: profiles.nlm.nih.gov Language: English - Date: 2008-10-22 10:29:54 Genetics Genodermatoses Channelopathy Genetic disorder Victor A. McKusick Genetic heterogeneity Cartilage–hair hypoplasia Marfan syndrome Hereditary elliptocytosis Health Medicine Syndromes