Phenotypes of the Tuberous Sclerosis Complex with a Revision of Diagnostic Criteria

No abstract is available for this paper.

• Publication year

  1991

• Venue

  Annals of the New York Academy of Sciences

• Publication date

  1991-04-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1111/j.1749-6632.1991.tb37742.xPMID 2039135
• 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.

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  1989cited by this paper
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  1989cited by this paper
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  1987cited by this paper
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  1985cited by this paper
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  1985cited by this paper
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  1984cited by this paper
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  1983cited by this paper
• Two Half‐siblings with Tuberous Sclerosis, Polycystic Kidneys and Hypertension

  1983cited by this paper
• Inheritance of tuberous sclerosis.

  1979cited by this paper
• Genetics of tuberose sclerosis.

  1978cited by this paper
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  1968cited by this paper
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  1962cited by this paper
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