Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Genetics in Medicine

• Publication date

  2011-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/gim.0b013e31822dd91fPMID 22261753
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• GeneReviews at GeneTests Medical Genetics Information Resource (Database Online)

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  2010cited by this paper
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  2009cited by this paper
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  2009cited by this paper
• Male‐to‐male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

  2009cited by this paper
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  2009cited by this paper
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  2007cited by this paper
• Severe neonatal manifestations of Costello syndrome

  2007cited by this paper
• Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome

  2007cited by this paper
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  2007cited by this paper
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  2006cited by this paper
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• Somatic mosaicism for an HRAS mutation causes Costello syndrome

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  2005cited by this paper
• The adult phenotype in Costello syndrome

  2005cited by this paper
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  2005cited by this paper
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• Mutations in Costello Syndrome : Detection of Constitutional Activating Mutations in Codon 12 and 13 and Loss of Wild-Type Allele in Malignancy

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  2002cited by this paper
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  2002cited by this paper
• Second case of bladder carcinoma in a patient with Costello syndrome.

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  1998cited by this paper
• Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

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• New syndrome.

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