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Coffin–Lowry syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Coffin–Lowry syndrome" in English language version.

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4doi.org
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4nih.gov
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1semanticscholar.org
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1whonamedit.com
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1clinicaltrials.gov
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1rarediseases.org
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1omim.org
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1clsf.info
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1web.archive.org
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clinicaltrials.gov

clsf.info

doi.org

  • Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A (August 2006). "Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin–Lowry syndrome". Clin. Genet. 70 (2): 161–6. doi:10.1111/j.1399-0004.2006.00660.x. PMID 16879200. S2CID 31521326.
  • Marques Pereira, P., Schneider, A., Pannetier, S. et al. "Coffin–Lowry syndrome". European Journal of Human Genetics 18, 627–633 (2010). doi:10.1038/ejhg.2009.189
  • Coffin GS, Siris E, Wegienka LC (1966). "Mental retardation with osteocartilaginous anomalies". Am. J. Dis. Child. 112 (3): 205–213. doi:10.1001/archpedi.1966.02090120073006.
  • Lowry B, Miller JR, Fraser FC (June 1971). "A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus". Am. J. Dis. Child. 121 (6): 496–500. doi:10.1001/archpedi.1971.02100170078009. PMID 5581017.

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A (August 2006). "Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin–Lowry syndrome". Clin. Genet. 70 (2): 161–6. doi:10.1111/j.1399-0004.2006.00660.x. PMID 16879200. S2CID 31521326.
  • Lowry B, Miller JR, Fraser FC (June 1971). "A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus". Am. J. Dis. Child. 121 (6): 496–500. doi:10.1001/archpedi.1971.02100170078009. PMID 5581017.

ncbi.nlm.nih.gov

  • Rogers RC, Abidi FE. Coffin–Lowry Syndrome. 16 July 2002 [Updated 1 February 2018. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews [Internet]. Seattle, Washington: University of Washington, Seattle.

ninds.nih.gov

omim.org

rarediseases.org

semanticscholar.org

api.semanticscholar.org

  • Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A (August 2006). "Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin–Lowry syndrome". Clin. Genet. 70 (2): 161–6. doi:10.1111/j.1399-0004.2006.00660.x. PMID 16879200. S2CID 31521326.

web.archive.org

whonamedit.com