| Conradi-Hünermann syndrome with ocular anomalies. | |
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MedLine Citation:
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PMID: 10617926 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a Japanese girl with the Conradi-Hünermann form of chondrodysplasia punctata and anterior segment malformations characteristic of Axenfeld-Rieger syndrome. The patient also had cataracts and unilateral optic atrophy. A possible role for homeobox-containing genes in the etiology of this type of chondrodysplasia punctata is suggested as an explanation for the coincidence of these two syndromes. |
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Authors:
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Y Tanaka; A Saitoh; H Taniguchi; K Oba; T Kitaoka; T Amemiya |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Ophthalmic genetics Volume: 20 ISSN: 1381-6810 ISO Abbreviation: Ophthalmic Genet. Publication Date: 1999 Dec |
Date Detail:
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Created Date: 2000-02-25 Completed Date: 2000-02-25 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 271-4 Citation Subset: IM |
Affiliation:
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Department of Ophthalmology, Nagasaki University School of Medicine, Sakamoto, Nagasaki, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Anterior Eye Segment
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abnormalities* Cataract / complications, congenital Chondrodysplasia Punctata / complications*, congenital, pathology Eye Diseases / complications*, congenital Female Humans Infant Optic Atrophy / complications, congenital Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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