Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation-Reference-Cited by-同舟云学术

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Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation

Published:2021-12 Issue:6 Volume:48 Page:1204-1208
ISSN:0385-8146
Container-title:Auris Nasus Larynx
language:en
Short-container-title:Auris Nasus Larynx

Author:

Yamazaki Hiroshi,Nakamura Takeshi,Hosono Katsuhiro,Yamaguchi Tomoya,Hiratsuka Yasuyuki,Hotta Yoshihiro,Takahashi Makio

Funder

Initiative on Rare and Undiagnosed Diseases for Adults

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

General Medicine,Otorhinolaryngology,Surgery

Reference16 articles.

1. Axenfeld‐Rieger syndrome;Seifi;Clin Genet,2018

2. Phenotype of a Belgian family with 6p25 deletion syndrome;Weegerink;Ann Otol Rhinol Laryngol,2016

3. Axenfeld-Rieger syndrome: new perspectives;Chang;Br J Ophthalmol,2012

4. Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development;Minoux;Development,2010

5. A complex regulatory network of transcription factors critical for ocular development and disease;Acharya;Hum Mol Genet,2011

Cited by 6 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. Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations;Molecular Cytogenetics;2023-06-11

2. Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives;Clinical Ophthalmology;2023-03

3. Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome;Experimental Eye Research;2023-01

4. Case report: Congenital mitral and tricuspid valve insufficiency in a patient with Axenfeld-Rieger syndrome;Frontiers in Cardiovascular Medicine;2022-09-23

5. A novel missense mutation of FOXC1 in an Axenfeld–Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review;BMC Medical Genomics;2021-10-29

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