×
About 123 results

ALLMedicine™ Axenfeld-rieger Syndrome Center

Research & Reviews  49 results

Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008669
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...

Adjunctive orthodontic therapy for prosthetic rehabilitation in a growing child with Ax...
https://doi.org/10.1111/scd.12579
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...

A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreas...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8035109
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...

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839469
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...

A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger synd...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7553719
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...

see more →