سمعي
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
| العنوان: | Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy. |
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| المؤلفون: | Zeitz, Christina, Navarro, Julien, Azizzadeh Pormehr, Leila, Méjécase, Cécile, Neves, Luiza M, Letellier, Camille, Condroyer, Christel, Albadri, Shahad, Amprou, Andréa, Antonio, Aline, Ben-Yacoub, Tasnim, Wohlschlegel, Juliette, Andrieu, Camille, Serafini, Malo, Bianco, Lorenzo, Antropoli, Alessio, Nassisi, Marco, El Shamieh, Said, Chantot-Bastaraud, Sandra, Mohand-Saïd, Saddek, Smirnov, Vasily, Sahel, José-Alain, Del Bene, Filippo, Audo, Isabelle |
| المصدر: | Genet Med ; ISSN:1530-0366 ; Volume:26 ; Issue:6 |
| بيانات النشر: | Elsevier Science |
| سنة النشر: | 2024 |
| المجموعة: | PubMed Central (PMC) |
| مصطلحات موضوعية: | Autosomal recessive rod-cone and cone-rod dystrophy, Genome sequencing, Novel gene defect, Retinal organoids, Zebrafish |
| الوصف: | Progressive inherited retinal degenerations (IRDs) affecting rods and cones are clinically and genetically heterogeneous and can lead to blindness with limited therapeutic options. The major gene defects have been identified in subjects of European and Asian descent with only few reports of North African descent. |
| نوع الوثيقة: | audio article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://doi.org/10.1016/j.gim.2024.101081Test; https://pubmed.ncbi.nlm.nih.gov/38293907Test |
| DOI: | 10.1016/j.gim.2024.101081 |
| الإتاحة: | https://doi.org/10.1016/j.gim.2024.101081Test https://pubmed.ncbi.nlm.nih.gov/38293907Test |
| حقوق: | Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved. |
| رقم الانضمام: | edsbas.3FA9E638 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.gim.2024.101081 |
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