Aniridia
What's New
Last Posted: Jan 06, 2022
- Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management.
Duffy Kelly A et al. Frontiers in pediatrics 2021 9733018 - Access to genetic testing for rare diseases: Existing gaps in public-facing information.
Robillard Julie M et al. World medical & health policy 2021 13(3) 518-525 - Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.
Bell Suzannah et al. Genes 2021 Jan 12(2) - Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Tarilonte María et al. Frontiers in genetics 2018 9479 - Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease.
Yahalom Claudia et al. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2018 Nov 256(11) 2157-2164 - CLINGEN Actionability Report for Wilms tumor-WT1
ClinGen Actionability Working Group - Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom Claudia et al. Ophthalmic genetics 2018 May 1-7 - The genetics of aniridia - simple things become complicated.
Wawrocka Anna et al. Journal of applied genetics 2018 May 59(2) 151-159 - Clinical utility gene card for: Aniridia.
Richardson Rose et al. European journal of human genetics : EJHG 2016 Jul - Acute lymphoblastic leukemia congenital sporadic aniridia
From NCATS Genetic and Rare Diseases Information Center
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 25, 2024
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