Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 7 (of 7 Records) |
Query Trace: Axenfeld-rieger Syndrome[original query] |
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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. Molecular vision 2013 19 1707-22. Millá Elena, Mañé Begoña, Duch Susana, Hernan Imma, Borràs Emma, Planas Ester, Dias Miguel de Sousa, Carballo Miguel, Gamundi María José, |
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome. Current eye research 2018 6 43 (11): 1334-1341. Wang Xun, Liu Xing, Huang Liqin, Fang Shaohua, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Guo Xiangmi |
A novel mutation of FOXC1 in a Chinese family with Axenfeld-Rieger syndrome. Experimental and therapeutic medicine 2019 8 18 (3): 2255-2261. Wu Xing, Xie Hai-Nan, Wu Tong, Liu Wei, Chen Lan-Lam, Li Zhao-Hui, Wang Da-Jiang, Wang Yi, Huang Hou-B |
Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome. Journal of ophthalmology 2019 7 2019 5642126. Huang Liqin, Meng Yong, Guo Xiangmi |
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genetics in medicine : official journal of the American College of Medical Genetics 2020 6 22 (10): 1673-1681. Wu Chen-Han Wilfred, Mann Nina, Nakayama Makiko, Connaughton Dervla M, Dai Rufeng, Kolvenbach Caroline M, Kause Franziska, Ottlewski Isabel, Wang Chunyan, Klämbt Verena, Seltzsam Steve, Lai Ethan W, Selvin Aravind, Senguttuva Prabha, Bodamer Olaf, Stein Deborah R, El Desoky Sherif, Kari Jameela A, Tasic Velibor, Bauer Stuart B, Shril Shirlee, Hildebrandt Friedhe |
Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome. Experimental eye research 2022 11 226 109307. Zhou Lin, Wang Xiaoli, An Jingqi, Zhang Yao, He Mengxia, Tang |
Craniofacial and dental features of Axenfeld-Rieger syndrome patients with PITX2 mutations. Orthodontics & craniofacial research 2023 1 . Arte Sirpa, Pöyhönen Minna, Myllymäki Emmi, Ronkainen Elisa, Rice David P, Nieminen Pek |
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- Page last updated:May 13, 2024
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