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Cone dystrophy, X-linked, with tapetal-like sheen

MedGen UID:
336776
•Concept ID:
C1844775
•
Disease or Syndrome
Synonym: X-linked recessive cone dystrophy with tapetal-like sheen
 
Monarch Initiative: MONDO:0010567
OMIM®: 304030

Professional guidelines

PubMed

Clinical utility gene card for: blue cone monochromatism.
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.232. PMID: 21267011Free PMC Article
Clinical utility gene card for: achromatopsia.
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.231. PMID: 21267001Free PMC Article

Recent clinical studies

Etiology

Clinical utility gene card for: blue cone monochromatism.
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.232. PMID: 21267011Free PMC Article
Clinical utility gene card for: achromatopsia.
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.231. PMID: 21267001Free PMC Article

Diagnosis

Clinical utility gene card for: blue cone monochromatism.
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.232. PMID: 21267011Free PMC Article
Clinical utility gene card for: achromatopsia.
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.231. PMID: 21267001Free PMC Article

Prognosis

Clinical utility gene card for: blue cone monochromatism.
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.232. PMID: 21267011Free PMC Article
Clinical utility gene card for: achromatopsia.
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.231. PMID: 21267001Free PMC Article

Clinical prediction guides

Clinical utility gene card for: blue cone monochromatism.
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.232. PMID: 21267011Free PMC Article
Clinical utility gene card for: achromatopsia.
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.231. PMID: 21267001Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

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    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      Related literature resources in PubMed

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