Linked Life Data

21203406

Source:http://linkedlifedata.com/resource/pubmed/id/21203406

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pubmed-article:21203406pubmed:abstractTextMicrophthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. A few genes (orthodenticle homeobox 2 [OTX2], retina and anterior neural fold homeobox [RAX], SRY-box 2 [SOX2], CEH10 homeodomain-containing homolog [CHX10], and growth differentiation factor 6 [GDF6]) have been implicated mainly in isolated micro/anophthalmia but causative mutations of these genes explain less than a quarter of these developmental defects. The essential role of the LIM homeobox 2 (LHX2) transcription factor in early eye development has recently been documented. We postulated that mutations in this gene could lead to micro/anophthalmia, and thus performed molecular screening of its sequence in patients having micro/anophthalmia.lld:pubmed
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pubmed-article:21203406pubmed:articleTitleMutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.lld:pubmed
pubmed-article:21203406pubmed:affiliationINSERM, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France.lld:pubmed
pubmed-article:21203406pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:21203406pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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