Anophthalmia-Waardenburg syndrome: A report of three cases
| العنوان: | Anophthalmia-Waardenburg syndrome: A report of three cases |
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| المؤلفون: | Nezir Suyugül, Mehmet Seven, Ayşın Kartal, Seniha Hacıhanefioğlu, Asim Cenani, Zuhal Suyugül |
| المصدر: | American Journal of Medical Genetics. 62:391-397 |
| بيانات النشر: | Wiley, 1996. |
| سنة النشر: | 1996 |
| مصطلحات موضوعية: | Male, endocrine system, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, Anophthalmia Waardenburg syndrome, Foot Deformities, Congenital, Eye disease, Consanguinity, Lower limb, Intellectual Disability, Anophthalmos, Humans, Medicine, Waardenburg Syndrome, Child, Genetics (clinical), Genetics, Anophthalmia, business.industry, Waardenburg syndrome, medicine.disease, eye diseases, Pedigree, Radiography, Child, Preschool, Female, Congenital disease, business, Hand Deformities, Congenital, Orbit |
| الوصف: | We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome. |
| تدمد: | 1096-8628 0148-7299 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::723ce5a7d7466f4493f215711bb18cfa https://doi.org/10.1002/(sici)1096-8628(19960424)62:4<391::aid-ajmg12>3.0.co;2-j |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....723ce5a7d7466f4493f215711bb18cfa |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10968628 01487299 |
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