ALLMedicine™ Axenfeld-rieger Syndrome Center
Research & Reviews 49 results
BMC Ophthalmology; Gołaszewska K, Dub N et. al.
Mar 31st, 2021 - Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant eye disorder that can also affect other organs of the human body. The condition is primarily characterized by the anterior segmental abnormalities of the eye. Here, we present an observat...
Special Care in Dentistry : Official Publication of the A... Siddiqui HP, Sennimalai K et. al.
Mar 16th, 2021 - The congenital oligodontia impeding the development of the alveolar process resulting in disproportionate jaw growth has been previously reported. This case report describes the interdisciplinary management of an 11-year-old girl with Axenfeld-Rie...
International Ophthalmology; Zhang F, Zhang L et. al.
Jan 26th, 2021 - Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by ocular anterior segment abnormalities. In the current study, we describe clinical and genetic findings in a Chinese ARS pedigree. An ARS pedigree was recruited and p...
American Journal of Medical Genetics. Part A; Souzeau E, Siggs OM et. al.
Nov 25th, 2020 - Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes ha...
Molecular Vision; Qin Y, Gao P et. al.
Oct 23rd, 2020 - To identify the genetic cause in a four-generation Chinese family with Axenfeld-Rieger syndrome (ARS). The family members received clinical examinations of the eye, tooth, periumbilical skin, and heart. Sanger sequencing and whole-exome sequencing...