Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series

S White, A Taranath, P Hanagandi… - American Journal …, 2023 - Am Soc Neuroradiology
Axenfeld-Rieger syndrome is an autosomal dominant condition associated with
multisystemic features including developmental anomalies of the anterior segment of the …

[HTML][HTML] Heterogeneity of Axenfeld–Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients

Y Zhang, X Chen, L Wang, X Sun, Y Chen - Frontiers in Genetics, 2021 - frontiersin.org
Axenfeld–Rieger Syndrome (ARS) is a rare disease with a wide spectrum of ocular and
systemic manifestations. The genetic spectrum of Chinese patients with ARS and genotype …

[PDF][PDF] Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening

L Muzyka, E Winterhalter, MA LoPresti, J Scoville… - Heliyon, 2023 - cell.com
Abstract Axenfeld-Rieger Syndrome (ARS) is comprised of a group of autosomal dominant
disorders that are each characterized by anterior segment abnormalities of the eye …

[HTML][HTML] Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum

LM Reis, DJ Amor, RA Haddad, CB Nowak… - Genes, 2023 - mdpi.com
Axenfeld–Rieger anomaly (ARA) is a specific ocular disorder that is frequently associated
with other systemic abnormalities. PITX2 and FOXC1 variants explain the majority of …

Axenfeld-Rieger syndrome: more than meets the eye

LM Reis, M Maheshwari, J Capasso, H Atilla… - Journal of medical …, 2023 - jmg.bmj.com
Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment
anomalies, with or without systemic features. The discovery of causative genes identified …

[HTML][HTML] Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

G De La Houssaye, I Bieche, O Roche, V Vieira… - BMC medical …, 2006 - Springer
Abstract Background Axenfeld-Rieger syndrome (ARS) is characterized by bilateral
congenital abnormalities of the anterior segment of the eye associated with abnormalities of …

Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion

H Titheradge, F Togneri, D McMullan… - American Journal of …, 2014 - Wiley Online Library
Axenfeld‐Rieger syndrome (ARS) is an autosomal dominant disorder with variable
expressivity. It is characterized by dysgenesis of the anterior segment of the eye together …

[HTML][HTML] A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

L Zhang, Y Peng, P Ouyang, Y Liang, H Zeng… - BMC Medical …, 2019 - Springer
Abstract Background Axenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic
disorder that is characterized by specific abnormalities of the anterior segment of the eye …

Ophthalmological manifestations of Axenfeld-Rieger syndrome: Current perspectives

K Michels, BL Bohnsack - Clinical Ophthalmology, 2023 - Taylor & Francis
Axenfeld-Rieger syndrome (ARS) is a rare congenital disease that is primarily characterized
by ocular anterior segment anomalies but is also associated with craniofacial, dental …

Axenfeld‐Rieger syndrome

M Seifi, MA Walter - Clinical genetics, 2018 - Wiley Online Library
Axenfeld‐Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of
developmental disorders affecting primarily the anterior segment of the eye, often leading to …