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return kwic search for role out of >500 occurrences
507580 occurrences (No.24 in the rank) during 5 years in the PubMed. [no cache] 500 found

28) Our data summarize the clinical variability associated with the ocular phenotype in a large family with aniridia, and help shed light on the role of PAX6 in neurocranial development.

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PMID:24266705 DOI:10.1111/cge.12329

2015 Clinical genetics

* Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.

- Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development. Here, we investigate clinical, molecular, and craniofacial features of a large Brazilian family with congenital aniridia. Among the 56 eyes evaluated, phenotype variation encompassed bilateral total aniridia to mild iris defects with extensive variation between eyes of the same individual. PAX6 molecular screening indicated a heterozygous splice mutation (c.141 + 1G>A). Thus, we hypothesize that this splicing event may cause variation in the expression of the wild-type transcript, which may lead to the observed variation in phenotype. Affected individuals were more brachycephalic, even though their face height and cephalic circumference were not significantly different when compared to those of non-affected relatives. From this, we infer that the head shape of affected subjects may also be a result of the PAX6 splice-site mutation. Our data summarize the clinical variability associated with the ocular phenotype in a large family with aniridia, and help shed light on the role of PAX6 in neurocranial development.

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(1)200 of	(4)14 null	(7)6 that	(10)2 by
(2)197 in	(5)9 and	(8)6 to	(11)2 during
(3)21 for	(6)9 as	(9)3 these	(12)2 limitations

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--- WordNet output for role --- =>役目, 役割, 任務, 職務, 役 Overview of noun role The noun role has 4 senses (first 4 from tagged texts) 1. (34) function, office, part, role -- (the actions and activities assigned to or required or expected of a person or group; "the function of a teacher"; "the government must do its part"; "play its role") 2. (10) character, role, theatrical role, part, persona -- (an actor's portrayal of someone in a play; "she played the part of Desdemona") 3. (8) function, purpose, role, use -- (what something is used for; "the function of an auger is to bore holes"; "ballet is beautiful but what use is it?") 4. (6) role -- (normal or customary activity of a person in a particular social setting; "what is your role on the team?") --- WordNet end ---