Matches in SemOpenAlex for { <https://semopenalex.org/work/W184213690> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W184213690 endingPage "124" @default.
- W184213690 startingPage "122" @default.
- W184213690 abstract "INTRODUCTION Microphthalmos is a severe congenital ophthalmic disease. As knowledge of gene locus for hereditary ocular diseases expands, so does the number of the Xp-Jinked ophthalmic disease (Table).1 A percentage of microphthalmos appears to be caused by the abnormal X chromosome. Microphthalmos and linear skin defects (MLS) syndrome (MIM309801) is a good illustration. This syndrome is a developmental disorder observed in XX individuals with distal Xp segmentai monosomy, or deletions and unbalanced translocations involved in the Xp22.3 region.2-6 Al Gazali2 described a Caucasian XX male with bilateral microphthalmos. This case was further described by Lindsay3 as MLS syndrome. Al Gazali4 reported two MLS syndrome female with de novo X;Y translocations. Their eye findings included microphthalmos, corneal opacities, and orbital cysts on the left side. Temple5 reported a Xp22.2-pter MLS syndrome female with left side microphthalmos. Lindor6 reported a MLS syndrome female with an Xp22.3 microdeletion and a chromosome satellite on the abnormal Xp-arm. Her eye findings were bilateral microphthalmos, sclerocornea, and cataracts. The phenotype of MLS syndrome is various. The dermal lesions of the patients are limited to the face and neck, and varies from slight to severe. MLS syndrome is recognized to be contiguous gene syndrome.3" @default.
- W184213690 created "2016-06-24" @default.
- W184213690 creator A5000732041 @default.
- W184213690 creator A5026096699 @default.
- W184213690 creator A5033623745 @default.
- W184213690 creator A5066869339 @default.
- W184213690 date "1998-03-01" @default.
- W184213690 modified "2023-09-25" @default.
- W184213690 title "An XX Male With Microphthalmos and Sclerocornea" @default.
- W184213690 cites W1973445288 @default.
- W184213690 cites W1975003612 @default.
- W184213690 cites W2008201582 @default.
- W184213690 cites W2009374621 @default.
- W184213690 cites W2029146706 @default.
- W184213690 cites W2149915631 @default.
- W184213690 cites W2167879926 @default.
- W184213690 doi "https://doi.org/10.3928/0191-3913-19980301-15" @default.
- W184213690 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9559515" @default.
- W184213690 hasPublicationYear "1998" @default.
- W184213690 type Work @default.
- W184213690 sameAs 184213690 @default.
- W184213690 citedByCount "16" @default.
- W184213690 countsByYear W1842136902013 @default.
- W184213690 countsByYear W1842136902014 @default.
- W184213690 countsByYear W1842136902015 @default.
- W184213690 countsByYear W1842136902020 @default.
- W184213690 crossrefType "journal-article" @default.
- W184213690 hasAuthorship W184213690A5000732041 @default.
- W184213690 hasAuthorship W184213690A5026096699 @default.
- W184213690 hasAuthorship W184213690A5033623745 @default.
- W184213690 hasAuthorship W184213690A5066869339 @default.
- W184213690 hasConcept C104317684 @default.
- W184213690 hasConcept C118487528 @default.
- W184213690 hasConcept C2776064365 @default.
- W184213690 hasConcept C2776148792 @default.
- W184213690 hasConcept C2778085061 @default.
- W184213690 hasConcept C2908844906 @default.
- W184213690 hasConcept C54355233 @default.
- W184213690 hasConcept C71924100 @default.
- W184213690 hasConcept C86803240 @default.
- W184213690 hasConceptScore W184213690C104317684 @default.
- W184213690 hasConceptScore W184213690C118487528 @default.
- W184213690 hasConceptScore W184213690C2776064365 @default.
- W184213690 hasConceptScore W184213690C2776148792 @default.
- W184213690 hasConceptScore W184213690C2778085061 @default.
- W184213690 hasConceptScore W184213690C2908844906 @default.
- W184213690 hasConceptScore W184213690C54355233 @default.
- W184213690 hasConceptScore W184213690C71924100 @default.
- W184213690 hasConceptScore W184213690C86803240 @default.
- W184213690 hasIssue "2" @default.
- W184213690 hasLocation W1842136901 @default.
- W184213690 hasLocation W1842136902 @default.
- W184213690 hasOpenAccess W184213690 @default.
- W184213690 hasPrimaryLocation W1842136901 @default.
- W184213690 hasRelatedWork W1601553723 @default.
- W184213690 hasRelatedWork W1988791794 @default.
- W184213690 hasRelatedWork W2013744756 @default.
- W184213690 hasRelatedWork W2034648879 @default.
- W184213690 hasRelatedWork W2072098667 @default.
- W184213690 hasRelatedWork W2079333104 @default.
- W184213690 hasRelatedWork W2161605870 @default.
- W184213690 hasRelatedWork W2371328868 @default.
- W184213690 hasRelatedWork W2410686537 @default.
- W184213690 hasRelatedWork W2772418366 @default.
- W184213690 hasVolume "35" @default.
- W184213690 isParatext "false" @default.
- W184213690 isRetracted "false" @default.
- W184213690 magId "184213690" @default.
- W184213690 workType "article" @default.