Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 gene

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Ophthalmic Genetics

• Publication date

  2012-10-18

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.3109/13816810.2012.681096PMID 22551329
• 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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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1990cited by this paper
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  1990cited by this paper
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  1989cited by this paper
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  2016cites this paper
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