Matches in SemOpenAlex for { <https://semopenalex.org/work/W1601388538> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W1601388538 endingPage "573" @default.
- W1601388538 startingPage "569" @default.
- W1601388538 abstract "Two female neonates were diagnosed post partum with bilateral aniridia. The first patient had the familial form, caused by a point mutation in the paired box 6 (PAX6) gene. The second patient had a sporadic aniridia caused by a de novo microdeletion involving both the PAX6 gene as well as the Wilms tumour suppressor-I (WT1) gene. This made screening for the presence of a Wilms tumour necessary. The second patient died several months after birth, due to respiratory insufficiency. Aniridia is a rare developmental disorder of the eye, with absence of most of the iris tissue, caused by an abnormality in the PAX6 gene on chromosome 11p13. Familial aniridia is usually due to a point mutation of the PAX6 gene, which causes solely ocular abnormalities. Sporadic aniridia is caused by a de novo deletion or microdeletion of chromosome 11p13, which affects not only the PAX6 gene but also the adjacent WT1 gene. In these patients, the Wilms tumour, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome can be present, and screening for a Wilms tumour is indicated. Unless previous investigation of a family member has demonstrated the WT1 gene to be normal, chromosome studies should always be performed in patients with aniridia." @default.
- W1601388538 created "2016-06-24" @default.
- W1601388538 creator A5042796726 @default.
- W1601388538 creator A5051628638 @default.
- W1601388538 creator A5062507278 @default.
- W1601388538 creator A5063622146 @default.
- W1601388538 creator A5070699207 @default.
- W1601388538 creator A5077149008 @default.
- W1601388538 date "2008-03-08" @default.
- W1601388538 modified "2023-09-27" @default.
- W1601388538 title "[Two neonates with congenital aniridia: the necessity of genetic investigation]." @default.
- W1601388538 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18402324" @default.
- W1601388538 hasPublicationYear "2008" @default.
- W1601388538 type Work @default.
- W1601388538 sameAs 1601388538 @default.
- W1601388538 citedByCount "0" @default.
- W1601388538 crossrefType "journal-article" @default.
- W1601388538 hasAuthorship W1601388538A5042796726 @default.
- W1601388538 hasAuthorship W1601388538A5051628638 @default.
- W1601388538 hasAuthorship W1601388538A5062507278 @default.
- W1601388538 hasAuthorship W1601388538A5063622146 @default.
- W1601388538 hasAuthorship W1601388538A5070699207 @default.
- W1601388538 hasAuthorship W1601388538A5077149008 @default.
- W1601388538 hasConcept C104317684 @default.
- W1601388538 hasConcept C142724271 @default.
- W1601388538 hasConcept C176944494 @default.
- W1601388538 hasConcept C2775999222 @default.
- W1601388538 hasConcept C2776608714 @default.
- W1601388538 hasConcept C30481170 @default.
- W1601388538 hasConcept C501734568 @default.
- W1601388538 hasConcept C51816534 @default.
- W1601388538 hasConcept C54355233 @default.
- W1601388538 hasConcept C71924100 @default.
- W1601388538 hasConcept C7602840 @default.
- W1601388538 hasConcept C86339819 @default.
- W1601388538 hasConcept C86803240 @default.
- W1601388538 hasConceptScore W1601388538C104317684 @default.
- W1601388538 hasConceptScore W1601388538C142724271 @default.
- W1601388538 hasConceptScore W1601388538C176944494 @default.
- W1601388538 hasConceptScore W1601388538C2775999222 @default.
- W1601388538 hasConceptScore W1601388538C2776608714 @default.
- W1601388538 hasConceptScore W1601388538C30481170 @default.
- W1601388538 hasConceptScore W1601388538C501734568 @default.
- W1601388538 hasConceptScore W1601388538C51816534 @default.
- W1601388538 hasConceptScore W1601388538C54355233 @default.
- W1601388538 hasConceptScore W1601388538C71924100 @default.
- W1601388538 hasConceptScore W1601388538C7602840 @default.
- W1601388538 hasConceptScore W1601388538C86339819 @default.
- W1601388538 hasConceptScore W1601388538C86803240 @default.
- W1601388538 hasIssue "10" @default.
- W1601388538 hasLocation W16013885381 @default.
- W1601388538 hasLocation W16013885382 @default.
- W1601388538 hasOpenAccess W1601388538 @default.
- W1601388538 hasPrimaryLocation W16013885381 @default.
- W1601388538 hasRelatedWork W1526594323 @default.
- W1601388538 hasRelatedWork W1528679579 @default.
- W1601388538 hasRelatedWork W1981673903 @default.
- W1601388538 hasRelatedWork W1993127181 @default.
- W1601388538 hasRelatedWork W2033090591 @default.
- W1601388538 hasRelatedWork W2043438219 @default.
- W1601388538 hasRelatedWork W2063578323 @default.
- W1601388538 hasRelatedWork W2181442504 @default.
- W1601388538 hasRelatedWork W2332647494 @default.
- W1601388538 hasRelatedWork W2404791238 @default.
- W1601388538 hasRelatedWork W2472476882 @default.
- W1601388538 hasRelatedWork W2559867017 @default.
- W1601388538 hasRelatedWork W270643052 @default.
- W1601388538 hasRelatedWork W2810859299 @default.
- W1601388538 hasRelatedWork W2952871589 @default.
- W1601388538 hasRelatedWork W2977942469 @default.
- W1601388538 hasRelatedWork W3025250584 @default.
- W1601388538 hasRelatedWork W3110972440 @default.
- W1601388538 hasRelatedWork W3123809815 @default.
- W1601388538 hasRelatedWork W3212057930 @default.
- W1601388538 hasVolume "152" @default.
- W1601388538 isParatext "false" @default.
- W1601388538 isRetracted "false" @default.
- W1601388538 magId "1601388538" @default.
- W1601388538 workType "article" @default.