دورية أكاديمية
أعرض في EDS

Aniridia: recent achievements in paediatric practice.

التفاصيل البيبلوغرافية
العنوان: Aniridia: recent achievements in paediatric practice.
المؤلفون: Ivanov I; Department of Paediatric Neurology, Children's Medical Centre of Israel, Petah Tiqva, Israel., Shuper A, Shohat M, Snir M, Weitz R
المصدر: European journal of pediatrics [Eur J Pediatr] 1995 Oct; Vol. 154 (10), pp. 795-800.
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print Cited Medium: Print ISSN: 0340-6199 (Print) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE
أسماء مطبوعة: Publication: Berlin : Springer Verlag
Original Publication: Berlin, New York, Springer-Verlag.
مواضيع طبية MeSH: Homeodomain Proteins*, Aniridia/*genetics, Child ; Chromosome Aberrations/genetics ; Chromosome Disorders ; Chromosome Mapping ; Chromosomes, Human, Pair 11 ; DNA Mutational Analysis ; DNA-Binding Proteins/genetics ; Eye Proteins ; Genes, Dominant/genetics ; Genetic Counseling ; Humans ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; Pedigree ; Repressor Proteins ; Syndrome ; Transcription Factors/genetics
مستخلص: Aniridia is a rare panocular disorder which primarily involves not only the iris, but also the retina, optic nerve, lens and cornea. Visual acuity deteriorates as a result of nystagmus, glaucoma, cataract, corneal opacities and retinal hypoplasia. Aniridia may appear as an isolated disorder, most often familial with autosomal dominance or sporadically in association with at least 12 syndromes. Both familial isolated and Wilms tumour, bilateral sporadic aniridia, genitourinary abnormalities and mental retardation syndrome-associated aniridia have been traced to a mutation of the PAX6 gene on band 11p13. Since genetic diagnosis of this disorder is already possible, counselling affected families should be preceded by karyotype studies and linkage analysis in familial cases of isolated aniridia. In sporadic cases of isolated aniridia or WAGR syndrome, we suggest that PAX6 mutation analysis be employed.
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المشرفين على المادة: 0 (DNA-Binding Proteins)
0 (Eye Proteins)
0 (Homeodomain Proteins)
0 (PAX6 Transcription Factor)
0 (PAX6 protein, human)
0 (Paired Box Transcription Factors)
0 (Repressor Proteins)
0 (Transcription Factors)
تواريخ الأحداث: Date Created: 19951001 Date Completed: 19960129 Latest Revision: 20190814
رمز التحديث: 20221213
DOI: 10.1007/BF01959784
PMID: 8529675
قاعدة البيانات: MEDLINE
الوصف
تدمد:0340-6199
DOI:10.1007/BF01959784