Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities...
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isolated syndrome CLOVES syndrome COACH syndrome Cobb syndrome Cockayne syndrome Coffin–Lowry syndrome Coffin–Siris syndrome Cogan syndrome Cohen syndrome Compartment...
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distinguishable from autosomal traits. One example of an X-linked trait is Coffin–Lowry syndrome, which is caused by a mutation in ribosomal protein gene. This mutation...
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but also in the hands and arms in the advanced stages of disease. Coffin–Lowry syndrome; severe intellectual disability sometimes associated with abnormalities...
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List of genetic disorders (redirect from List of genetic syndromes)
RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...
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Craniosynostosis Coffin–Lowry syndrome Copenhagen disease Fibrodysplasia ossificans progressiva Fibrous dysplasia Fong disease (or Nail–patella syndrome) Fracture...
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needed] Alport syndrome Coffin–Lowry syndrome (CLS) Fragile X syndrome Idiopathic hypoparathyroidism Incontinentia pigmenti Rett syndrome (RS) Vitamin D...
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fatigue syndrome Chronic inflammatory demyelinating polyneuropathy Charles bonnet syndrome Chronic pain Cluster headache Cockayne syndrome Coffin–Lowry syndrome...
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differentiation. Mutations in this gene have been associated with Coffin–Lowry syndrome (CLS). RPS6KA3 has been shown to interact with CREB-binding protein...
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disorders such as mannosidosis, myotonic dystrophy, Lowe syndrome, and Coffin–Lowry syndrome. Dilation is also a common characteristic of diseases or...
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Prader–Willi syndrome, Coffin–Lowry syndrome, Klinefelter syndrome, Wilson–Turner syndrome, Bardet–Biedl syndrome, Smith–Fineman–Myers syndrome (Chudley-Lowry syndrome)...
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deficiency of Coffin–Lowry syndrome Coffin–Siris syndrome COFS syndrome Cogan–Reese syndrome Cogan syndrome Cohen-Gibson syndrome Cohen–Hayden syndrome Cohen–Lockood–Wyborney...
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Cock Cockayne syndrome – Edward Alfred Cockayne Coffin–Lowry syndrome – Grange Coffin, Robert Lowry Coffin–Siris syndrome – Grange Coffin, Evelyn Siris...
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disorder soon became known as Lujan–Fryns syndrome. Fragile X syndrome Aarskog syndrome Coffin–Lowry syndrome FG syndrome Lacombe, D.; Bonneau, D.; Verloes,...
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A syndrome is a set of medical signs and symptoms that are correlated with each other. A syndrome can affect one or more of body systems. Different syndromes...
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contains 22 exons. Mutations in this gene have been associated with Coffin–Lowry syndrome, a disease characterised by severe psychomotor retardation and other...
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X-linked intellectual disability (redirect from Lindsay Burn syndrome)
X-linked syndromes include intellectual disability as part of the presentation. These include: Coffin–Lowry syndrome DDX3X syndrome MASA syndrome MECP2 duplication...
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deficiency with Michel Koenig (Ouahchi et al, Nature Genetics, 1995), Coffin-Lowry syndrome (mental retardation linked to chromosome X) with André Hanauer (Trivier...
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320.322.500.249 – Coffin–Lowry syndrome MeSH C16.320.322.500.500 – fragile X syndrome MeSH C16.320.322.500.625 – Lesch–Nyhan syndrome MeSH C16.320.322...
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deficiency; 607426; PDSS2 Coffin–Lowry syndrome; 303600; RPS6KA3 Cohen syndrome; 216550; COH1 Cold-induced autoinflammatory syndrome, familial; 120100; NLRP3...
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adrenoleukodystrophy MeSH C10.597.606.643.455.249 – coffin-lowry syndrome MeSH C10.597.606.643.455.500 – fragile x syndrome MeSH C10.597.606.643.455.562 – glycogen...
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writer, broadcaster and filmmaker who befriended artists from Dalí to Lowry – obituary Gary Vincent Nelson Death of legendary Clare hurler Jackie O'Gorman...
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These include three government-run critical care facilities in Florida at Lowry Park Zoo, Miami Seaquarium, and SeaWorld Orlando. After initial treatment...
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explores the Victorian industrial landscape of Salford depicted in L. S. Lowry's paintings – most recognisably with matchstick figures. He finishes on Kersal...
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a closing of this chapter and, perhaps, a chance to start anew". Brian Lowry of CNN wrote, "despite the painstaking research, viewers might come away...
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Archived from the original on October 3, 2003. Retrieved June 24, 2017. Lowry, Brian (March 20, 1994). "Fleet of pilots ready". Variety. Retrieved May...
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Stavros on Spoon Island, Stefan tied him up and left him inside an empty coffin. However, when the police came looking for Stefan, they freed Stavros, and...
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Cycling Productions. Retrieved May 14, 2013. Buddy Walk. National Down Syndrome Society. Retrieved May 14, 2013. Craft Lager Festival. Colorado Springs...
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1999 The Worm-Guy Guy Syndrome S3 E1 Men in Black: The Series The Men in Black by Lowell Cunningham The "J" is for James Syndrome S3 E14 May 20, 2000 Wendey...
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"Children's Mass for JFK's Son". Miami News. August 9, 1963. p. 1. Philip J. Lowry, Baseball's Longest Games: A Comprehensive Worldwide Record Book (McFarland...
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