Familial Axenfeld-Rieger Anomaly, Atrial Septal Defect, and Sensorineural Hearing Loss
Author:
Publisher
American Medical Association (AMA)
Subject
Ophthalmology
Cited by 52 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies;Frontiers in Genetics;2023-09-07
2. Case report: Congenital mitral and tricuspid valve insufficiency in a patient with Axenfeld-Rieger syndrome;Frontiers in Cardiovascular Medicine;2022-09-23
3. Axenfeld–Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report;Head & Face Medicine;2022-07-08
4. Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants;Cornea;2022-03-30
5. De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype;American Journal of Medical Genetics Part A;2021-11-19
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