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词条 Cataract-microcornea syndrome
释义

  1. Genetics

  2. Diagnosis

  3. Treatment

  4. References

  5. External links

{{refimprove|date=October 2015}}{{Infobox medical condition (new)
| name = Cataract-microcornea syndrome
| synonyms =
| image = Autosomal dominant - en.svg
| caption = Cataract-microcornea syndrome is inherited in an autosomal dominant manner[1]
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| types =
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The cataract-microcornea syndrome is the association of congenital cataract and microcornea.

Genetics

Mutations in ABCA3 were found to be associated to this syndrome.[2]

Diagnosis

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Treatment

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References

1. ^{{cite web|title=OMIM Entry - # 116200 - CATARACT 1, MULTIPLE TYPES; CTRCT1|url=https://omim.org/entry/116200|website=omim.org|accessdate=1 September 2017|language=en-us}}
2. ^{{Cite journal | pmid = 25406294| year = 2014| author1 = Chen| first1 = P| title = Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome| journal = Investigative Ophthalmology & Visual Science| last2 = Dai| first2 = Y| last3 = Wu| first3 = X| last4 = Wang| first4 = Y| last5 = Sun| first5 = S| last6 = Xiao| first6 = J| last7 = Zhang| first7 = Q| last8 = Guan| first8 = L| last9 = Zhao| first9 = X| last10 = Hao| first10 = X| last11 = Wu| first11 = R| last12 = Xie| first12 = L| doi = 10.1167/iovs.14-14098 | volume=55 | pages=8031–43}}

External links

{{Medical resources
| DiseasesDB =
| ICD10 = Q13.8
| ICD9 =
| ICDO =
| OMIM = 116150
| MedlinePlus =
| eMedicineSubj =
| eMedicineTopic =
| MeshID = C538287
| Orphanet = 1377
}}{{DEFAULTSORT:Cataract-microcornea syndrome}}{{eye-disease-stub}}

1 : Syndromes affecting the eyes

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