| Iris transillumination defects associated with pallister-killian syndrome. | |
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MedLine Citation:
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PMID: 20128558 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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This report describes a new finding of iris transillumination defects in Pallister-Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12. |
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Authors:
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Benjamin H Ticho |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-01-21 |
Journal Detail:
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Title: Journal of pediatric ophthalmology and strabismus Volume: 47 ISSN: 0191-3913 ISO Abbreviation: J Pediatr Ophthalmol Strabismus Publication Date: 2010 Jan-Feb |
Date Detail:
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Created Date: 2010-02-04 Completed Date: 2010-03-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7901143 Medline TA: J Pediatr Ophthalmol Strabismus Country: United States |
Other Details:
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Languages: eng Pagination: 58-9 Citation Subset: IM |
Copyright Information:
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Copyright 2010, SLACK Incorporated. |
Affiliation:
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Hope Children's Hospital, Oak Lawn, Illinois, Chicago, Illinois, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
genetics Anus, Imperforate / diagnosis*, genetics Chromosome Aberrations* Chromosomes, Human, Pair 12* Craniofacial Abnormalities / diagnosis*, genetics Humans Infant, Newborn Intestinal Volvulus / diagnosis*, genetics Iris / abnormalities Iris Diseases / congenital*, diagnosis, genetics Male Mosaicism Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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