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Genetics / Genodermatoses / Channelopathy / Genetic disorder / Victor A. McKusick / Genetic heterogeneity / Cartilage–hair hypoplasia / Marfan syndrome / Hereditary elliptocytosis / Health / Medicine / Syndromes


On Lumpers and Splitters, or the Nosology of Genetic Disease* VICTOR A. MCKUSICK, M.D.** Introduction
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Document Date: 2008-10-22 10:29:54

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City

Cincinnati / Louisville / Rostock / Hicken / Logan / Detroit / Amsterdam / Baltimore / Berlin / /

Company

Jackson Laboratory / McGraw-Hill / Paul B. Hoeber InC. / 2nd Ed. Johns Hopkins Press / C. V. Mosby Co. / Macmillan Co. / Roper / L U M P E R S A / Johns Hopkins Press / /

Country

Iceland / Portugal / Germany / /

Facility

Bar Harbor / Utah State University / Tufts College / Jackson Laboratory / /

MedicalCondition

microcephaly / Hurler syndrome / islet cell tumors / Retinitis pigmentosa / Sanfilippo syndrome / eg Hartnup’s disease / familial endocrine adenomatosis / isolated growth hormone deficiency / galactosemia / Mucopolysaccharidoses I / Thalassemia major / recessive congenital amaurosis / Peutz-Jeghers syndrome / disorder / osteogenesis imperfecta / phenylketonuria / Illness / Erythroblastic anemia / associated Zollinger-Ellison syndrome / Birth Defects / angioid streaks / Hereditary elliptocytosis / chondrodystrophia calcificans congenita / homocystinuria / Gardner syndrome / thalidomide syndrome / Troyer syndrome / Hunter syndrome / hemophilia A / Genetic Disease / Gzrdner syndrome / congenital disorders / E NOSOLOGY OF GENETIC DISEASE / Primary systemic amyloidosis / onset Feet Hands G. I. complaints Common Rare Impotence / amyloidosis / hereditary neuropathic amyloidosis / congenital recessive deafness / intestinal polyposis / Marfan syndrome / peroneal muscular atrophy / diseases / incontinentia pigmenti / OF GENETIC DISEASE / glycogenoses / deficiency / hereditary syndromes / ectopia lentis / color blindness / pleiotropic syndrome / disorders / glycogen storage diseases / Down syndrome / congenital deafness / pseudoxanthoma elasticum / amyloid neuropathy / X-linked spastic paraplegia14 / arachnodactyly / X-linked hemophilia / extra-bowel tumors / nonallelic recessive deafness / Rubinstein syndrome / focal dermal hypoplasia / E spherocytic hemolytic anemia / I. The Ellis-van Creveld syndrome / peripheral neuropathy / Prader-Willi syndrome / Cornelia de Lange syndrome / glycogen storage disease / deafness / homocystinuria and several other conditions / autosomal recessive disorder / hypercalcemia-supravalvar stenosis-mental retardation syndrome / hereditary nonspherocytic hemolytic anemia / hereditary pattern / rubella syndrome / genetic amyloidoses / genetic mucopolysaccharidoses / mucopolysaccharidoses / few congenital disorders / deaf-mutism / familial atypical generalized amyloidosis / presenile dementia / disease / spastic paraplegia / Wermer’s syndrome / unusual disorder / hemophilia B / Dwarfism / spastic parapelgia / Peutz-Jeqhers syndrome / mucopolysaccharidosis I / Mast syndrome / recessive spastic paraplegia / Heritable Disorders / cri-du-chat syndromes / recessive congenital deafness / anemia / some52 call glycogenosis I11 Cori’s disease / syndrome / Marfan’s syndrome / particular syndrome / genetic disorders / /

Organization

Tufts College / Department of Medicine / Division of Medical Genetics / Utah State University / Johns Hopkins Medical School / Congress / Johns Hopkins University School of Medicine / /

Person

William Allan / Verschner / Cornelia de Lange / Hurler / Jonathan Hutchinson / VICTOR A. MCKUSICK / Murdock / Sanfilippo / Victor A. McKmick / Chung / Charles C. Thomas / Robinson / Morton / Josef Warkany / Lulu / /

Position

D. J. / revered Civil War President / Professor of Medicine and Chief / physician / author / G. P. / Professor of Medicine / skilled word-artist / Carpenter / G. G . /

Product

Skullcandy G.I. Headphone/Headset / /

ProvinceOrState

Maine / Indiana / Michigan / Utah / Lancaster County / Kentucky / Maryland / N. F. / Pennsylvania / /

PublishedMedium

Perspectives in Biology and Medicine / /

Region

Mediterranean / /

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