Cargando…

Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome

PURPOSE: To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings. METHODS: Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the produc...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Kuanshu, Yang, Liu, Liu, Ying, Lin, Ding
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485333/ https://www.ncbi.nlm.nih.gov/pubmed/28695001 http://dx.doi.org/10.1155/2017/5078079

Ejemplares similares

The clinical and genetic findings in a Chinese family with Axenfeld-Rieger syndrome
por: Cheng, Lingyan, et al.
Publicado: (2022)

A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
por: Yang, Hee Jung, et al.
Publicado: (2015)

A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome
por: Li, Dandan, et al.
Publicado: (2008)

Heterogeneity of Axenfeld–Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients
por: Zhang, Youjia, et al.
Publicado: (2021)

Magnetic resonance imaging findings in Axenfeld–Rieger syndrome
por: Whitehead, Matthew T, et al.
Publicado: (2013)

Unusual presentation in Axenfeld-Rieger syndrome
por: Parikh, Rajul S, et al.
Publicado: (2011)

Ocular hypertension in Axenfeld-Rieger Syndrome
por: Espinosa-Barberi, Glenda, et al.
Publicado: (2020)

Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum
por: Reis, Linda M., et al.
Publicado: (2023)

Axenfeld-Rieger syndrome: a novel histopathologic finding associated with corneal abnormalities
por: Yu, Ting, et al.
Publicado: (2022)

A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome
por: Qin, Yayun, et al.
Publicado: (2020)

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome
por: Wang, Rui, et al.
Publicado: (2021)

Surgical outcomes of Glaucoma associated with Axenfeld-Rieger syndrome
por: Zepeda, Emily M., et al.
Publicado: (2020)

Anaesthetic challenges in a patient with Axenfeld Rieger Syndrome
por: Baduni, Neha, et al.
Publicado: (2012)

A case of Axenfeld–Rieger syndrome with retinal detachment
por: Chakraborty, Debdulal, et al.
Publicado: (2022)

Axenfeld-Rieger syndrome: more than meets the eye
por: Reis, Linda M., et al.
Publicado: (2023)

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives
por: Michels, Kristi, et al.
Publicado: (2023)

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome
por: Lo Faro, Valeria, et al.
Publicado: (2020)

Double trouble: Microspherophakia with Axenfeld-Rieger anomaly
por: Shakrawal, Jyoti, et al.
Publicado: (2019)

Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome
por: Fuse, Nobuo, et al.
Publicado: (2007)

A patient with concurrent Axenfeld-Rieger and Stickler syndromes verified by molecular genetics
por: Fan, Jason, et al.
Publicado: (2023)

Missed case of Axenfeld-Rieger syndrome: a case report
por: Dhir, L, et al.
Publicado: (2008)

Anomalous Scleral Insertion of Superior Oblique in Axenfeld-Rieger Syndrome
por: Park, Sang Woo, et al.
Publicado: (2009)

Axenfeld-Rieger syndrome associated with severe maxillofacial and skeletal anomalies
por: Gokce, Gokcen, et al.
Publicado: (2015)

Progressive Vision Loss in a Patient With Axenfeld-Rieger Syndrome
por: Khan, Taimoor A, et al.
Publicado: (2022)

Axenfeld-Rieger syndrome in monozygotic twin brothers: Case report
por: Akcay, Betul Ilkay Sezgin, et al.
Publicado: (2022)

Unusual association of Axenfeld-Rieger syndrome and wandering spleen: A case report
por: Chang, Yi-Lin, et al.
Publicado: (2020)

OLOGEN(®) implant in the management of glaucoma in an unusual case of Axenfeld–Rieger syndrome
por: Radhakrishnan, O. K., et al.
Publicado: (2014)

Dental and Craniofacial Manifestation of Axenfeld-Rieger Syndrome: A Case Report
por: Badnaware, Sheetal, et al.
Publicado: (2022)

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
por: Kawanami, Yukino, et al.
Publicado: (2023)

Case Report: Congenital Pseudoacorea in an Ocular Axenfeld-Rieger Syndrome: What is it?
por: Alza, Andrés Germán
Publicado: (2023)

A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome
por: Kim, Gyu-Nam, et al.
Publicado: (2013)

Axenfeld–Rieger syndrome combined with ectropion uveae and pigment dispersion syndrome: A case report
por: Li, Yang, et al.
Publicado: (2023)

Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome
por: Shah, Bhavin M, et al.
Publicado: (2014)

Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
por: Yun, Jae Won, et al.
Publicado: (2013)

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma
por: Micheal, Shazia, et al.
Publicado: (2016)

PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome
por: Zhao, Cui-Mei, et al.
Publicado: (2015)

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation
por: Dressler, Simone, et al.
Publicado: (2010)

MON-257 Axenfeld Rieger Syndrome: An Uncommon Cause of Growth Hormone Deficiency
por: Santini, Alberto Javier Grana, et al.
Publicado: (2020)

The Axenfeld–Rieger Syndrome Gene FOXC1 Contributes to Left–Right Patterning
por: Chrystal, Paul W., et al.
Publicado: (2021)

Glaucoma drainage device implantation in a pregnant woman with axenfeld–rieger syndrome
por: Ramesh, Prasanna Venkatesh, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_6iahtpfp6ei4et8i8kbehas6pr