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Medical genetics / Coffin–Lowry syndrome / Mental retardation / Genodermatoses / RPS6KA3 / Ribosomal s6 kinase / X-linked mental retardation / Lujan-Fryns syndrome / Health / Syndromes / Genetic genealogy


Coffin–Lowry syndrome
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Document Date: 2010-05-20 10:43:12


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City

Strasbourg / Paris / Young / Hoboken / Illkirch / /

Company

Wegenkia LC / France European Journal / Hunter AG / Matsuda / Ge / Temtamy SA / Macmillan Publishers Limited / /

Country

France / /

Currency

cent / USD / /

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Event

Product Issues / /

Facility

terminus of RSK / /

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IndustryTerm

carrier manifestations / carrier females / patients lacking protein product / carrier testing / food / female carrier detection / female carrier patients / diagnostic tool / /

MedicalCondition

loss of consciousness / microcephaly / congenital hypotonia Seizures / mild mental retardation / hypertelorism / progressive osteopenia / RSK2(RPS6KA3) gene cause CoffinLowry syndrome / Drop attacks / Teeth Anodontia / mental retardation syndrome / sensorineural hearing loss / injury / Obesity / spinal kyphosis/scoliosis / Kyphosis/scoliosis / X-linked semidominant syndrome / Williams syndrome / orbital hypertelorism / scoliosis / hearing impairment / Coffin Lowry syndrome / cranial hyperostosis / ATR-X syndrome / chromosome X-linked mental retardation / mental retardation / Cardiac Mitral regurgitation / schizophrenia / disease / nonsyndromic X-linked mental retardation / dominant gene mental retardation syndrome / psychiatric illness / Borjeson-Forssman-Lehmann syndrome / X-linked mental retardation / FG syndrome / undiagnosed suspected X-linked mental retardation / non-specific mental retardation / Hernia / nonsyndromic mental retardation / movement disorders / kyphosis / Lowry syndrome / generalized hypotonia / Pitt-Hopkins syndrome / Epilepsy / Coffin-Lowry syndrome / hypotonia / RPS6KA3 (RSK2) causing Coffin-Lowry syndrome / depression / CoffinLowry syndrome / inherited faciodigital mental retardation syndrome / epileptic seizures / /

MedicalTreatment

counseling / /

Organization

Centre National / PRACTICAL GENETICS In association / Institut National / Universite´ / Department of Neurobiology and Genetics / /

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Position

Strachan RT / /

Product

clonazepam / spatial learning / reduced control / spatial navigation / mice / /

PublishedMedium

European Journal of Human Genetics / la Recherche / /

Technology

Genomics / positional cloning / apoptosis / MRI / gene expression / genotype / /

URL

www.nature.com/ejhg / /

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