Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes

التفاصيل البيبلوغرافية
العنوان: Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes
المؤلفون: Benjamin W. Darbro, Mallory R. Tollefson, Erin A. Boese, Wallace L.M. Alward, Michael J. Schnieders, John H. Fingert
المصدر: Current Eye Research. 45:91-96
بيانات النشر: Informa UK Limited, 2019.
سنة النشر: 2019
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, genetic structures, business.industry, Glaucoma, medicine.disease, eye diseases, Sensory Systems, Hypoplasia, Morbid obesity, 03 medical and health sciences, Cellular and Molecular Neuroscience, Ophthalmology, 0302 clinical medicine, Aniridia, Foveal, Diabetes mellitus, 030221 ophthalmology & optometry, medicine, sense organs, PAX6, Stem cell, business, 030217 neurology & neurosurgery
الوصف: Purpose: Aniridia is a rare congenital eye disease, characterized by a constellation of symptoms including hypoplastic irides, foveal hypoplasia, early cataract, corneal stem cell deficienc...
تدمد: 1460-2202
0271-3683
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4241b8ff3062b902069dbed803a925f2Test
https://doi.org/10.1080/02713683.2019.1649704Test
رقم الانضمام: edsair.doi...........4241b8ff3062b902069dbed803a925f2
قاعدة البيانات: OpenAIRE