Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of thePAX6 gene
| العنوان: | Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of thePAX6 gene |
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| المؤلفون: | Isabel M. Hanson, Liesel M. FitzGerald, John H. Fingert, Joanne L. Dickinson, Michèle M. Sale, David A. Mackey, Veronica van Heyningen, Jacinta C. Charlesworth, Sarah J. Matthews, Jamie E Craig |
| المصدر: | Human Mutation. 20:322-322 |
| بيانات النشر: | Hindawi Limited, 2002. |
| سنة النشر: | 2002 |
| مصطلحات موضوعية: | Male, congenital, hereditary, and neonatal diseases and abnormalities, PAX6 Transcription Factor, genetic structures, DNA Mutational Analysis, Biology, Cytosine, Genetic variation, Genetics, medicine, Humans, Paired Box Transcription Factors, Eye Proteins, Aniridia, Genetics (clinical), Sequence Deletion, Homeodomain Proteins, Genetic Variation, Partial aniridia, medicine.disease, eye diseases, Hypoplasia, Pedigree, Repressor Proteins, Phenotype, medicine.anatomical_structure, Mutation, Mutation (genetic algorithm), Mutation testing, Female, sense organs, PAX6, Transcription Factors, Optic disc |
| الوصف: | The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from total aniridia to very mild anterior segment findings. Other findings included partial aniridia, iris stromal hypoplasia, keratitis, cataract, glaucoma, optic disc anomalies and foveal hypoplasia. It appears that independent modifying factors may underlie the variability of the different phenotypic features of the PAX6 mutation. |
| تدمد: | 1098-1004 1059-7794 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d10adca17bd4ef0b2aa478070df74310Test https://doi.org/10.1002/humu.9066Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....d10adca17bd4ef0b2aa478070df74310 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10981004 10597794 |
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