Axenfeld-rieger Syndrome
What's New
Last Posted: Mar 15, 2023
- Craniofacial and dental features of Axenfeld-Rieger syndrome patients with PITX2 mutations.
Arte Sirpa, et al. Orthodontics & craniofacial research 2023 0 - Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
Wang Xun, et al. Current eye research 2018 0 (11) 1334-1341 - A novel mutation of FOXC1 in a Chinese family with Axenfeld-Rieger syndrome.
Wu Xing, et al. Experimental and therapeutic medicine 2019 0 (3) 2255-2261 - Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome.
Huang Liqin, et al. Journal of ophthalmology 2019 0 5642126 - Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Wu Chen-Han Wilfred, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 0 (10) 1673-1681 - Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.
Zhou Lin, et al. Experimental eye research 2022 0 109307 - Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Millá Elena, et al. Molecular vision 2013 0 1707-22 - Axenfeld-Rieger syndrome
From NCATS Genetic and Rare Diseases Information Center
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 01, 2024
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