Atlas of X-linked intellectual disability syndromes /

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The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner. Each syndrome is defined and...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor principal: Stevenson, Roger E., 1940-
Otros Autores: Schwartz, Charles E., Rogers, R. Curtis (Richard Curtis), 1953-
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Oxford ; New York : Oxford University Press, [2012]
Edición:Second edition.
Temas:
X-linked mental retardation > Atlases.
X-linked mental retardation.
Mental Retardation, X-Linked
Déficience intellectuelle liée au chromosome X > Atlas.
Déficience intellectuelle liée au chromosome X.
HEALTH & FITNESS > Diseases > General.
MEDICAL > Clinical Medicine.
MEDICAL > Diseases.
MEDICAL > Evidence-Based Medicine.
MEDICAL > Internal Medicine.
X-linked mental retardation
Atlas
atlases.
Scientific atlases
Atlases
Atlases.
Atlas.
Acceso en línea:Texto completo
Tabla de Contenidos:
  • Cover; TABLE OF CONTENTS; FOREWORD; PREFACE; AARSKOG SYNDROME; ABIDI SYNDROME; ADRENOLEUKODYSTROPHY; AGENESIS OF THE CORPUS CALLOSUM, X-LINKED; AHMAD SYNDROME; AICARDI SYNDROME; ALLAN-HERNDON-DUDLEY SYNDROME; ALPHA-THALASSEMIA INTELLECTUAL DISABILITY (SEE ALSO ATRX-ASSOCIATED XLID); AP1S2-ASSOCIATED XLID; APAK ATAXIA-SPASTIC DIPLEGIA SYNDROME; ARMFIELD SYNDROME; ARTS SYNDROME; ARX-ASSOCIATED XLID; ATAXIA-DEAFNESS-DEMENTIA, X-LINKED; ATKIN-FLAITZ SYNDROME; ATRX-ASSOCIATED XLID; BERGIA CARDIOMYOPATHY; BERTINI SYNDROME; BÖRJESON-FORSSMAN-LEHMANN SYNDROME; BRANCHIAL ARCH SYNDROME, X-LINKED.
  • Cantu syndromecarpenter-waziri syndrome (see also atrx-associated xlid); cerebro-cerebello-coloboma syndrome; cerebro-oculo-genital syndrome; cerebro-palato-cardiac syndrome (see also renpenning syndrome); charcot-marie-tooth neuropathy, cowchock variant; charcot-marie-tooth neuropathy, ionasescu variant; chassaing-lacombe chondrodysplasia; christian syndrome; christianson syndrome; chudley-lowry syndrome (see also atrx-associated xlid); ck syndrome; clark-baraitser syndrome; coffin-lowry syndrome; cornelia de lange syndrome, x-linked; craniofacioskeletal syndrome.
  • Creatine transporter deficiencyduchenne muscular dystrophy; dyskeratosis congenita; epilepsy-intellectual disability in females (eidf); fitzsimmons syndrome; flna-associated xlid; fragile x syndrome; giuffrè-tsukahara syndrome; glycerol kinase deficiency; golabi-ito-hall syndrome: (see also renpenning syndrome); goldblatt spastic paraplegia syndrome; goltz syndrome; graham anophthalmia syndrome; gustavson syndrome; hall orofacial syndrome; hereditary bullous dystrophy, x-linked; holmes-gang syndrome (see also atrx-associated xlid); homfray seizures-contractures; hyde-forster syndrome.
  • Hydranencephaly with abnormal genitalia (see also arx-associated xlid)hydrocephaly-cerebellar agenesis syndrome; hydrocephaly-masa spectrum; hypoparathyroidism, x-linked; incontinentia pigmenti; juberg-marsidi-brooks syndrome; kang syndrome; lenz microphthalmia syndrome; lesch-nyhan syndrome; lissencephaly and abnormal genitalia, x-linked (see also arx-associated xlid); lissencephaly, x-linked; lowe syndrome; lujan syndrome; martin-probst syndrome; mehmo syndrome; menkes syndrome; midas syndrome; miles-carpenter syndrome; mohr-tranebjaerg syndrome; monoamine oxidase-a deficiency.
  • Mucopolysaccharidosis iiamyotubular myopathy; n-alpha-acetyltransferase deficiency; nance-horan syndrome; norrie disease; opitz fg syndrome; optic atrophy, x-linked; oral-facial-digital syndrome i; ornithine transcarbamoylase deficiency; otopalatodigital syndrome i (see also flna-associated xlid); otopalatodigital syndrome ii (see also flna-associated xlid); paine syndrome; pallister w syndrome; partington syndrome (see also arx-associated xlid); pelizaeus-merzbacher syndrome; periventricular nodular heterotopia (see also flna-associated xlid); pettigrew syndrome.

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