Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome
Author:
Affiliation:
1. Department of Radiology; University of California San Diego; San Diego, California
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35926/fullpdf
Reference45 articles.
1. The oculo-auriculo-fronto-nasal syndrome (OAFNS)-Description of a rare and complex craniofacial deformity and its interdisciplinary management before school age;Adolphs;J Craniomaxillofac Surg,2012
2. FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome;Alazami;Am J Hum Genet,2009
3. Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo-vertebral dysplasia (goldenhar-gorlin syndrome);Aleksic;Childs Brain,1984
4. Severe facial clefting, limbic dermoid, hypoplasia of the corpus callosum, and multiple skin appendages: Severe frontofacionasal “dysplasia” or newly recognised syndrome;al-Gazali;Am J Med Genet,1996
5. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice;Beck;Hum Mol Genet,2013
Cited by 15 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. Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review;American Journal of Medical Genetics Part A;2023-06-07
2. Cleft 1/13;Facial Reconstruction of Unusual Facial Clefts;2023
3. Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome;Clinical Dysmorphology;2022-09-12
4. Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients;American Journal of Medical Genetics Part A;2022-04-21
5. Oculo-Auriculo-Fronto-Nasal Syndrome With Duane Retraction Syndrome and Dysplastic Bony Structure in the Midline of Nose;Journal of Craniofacial Surgery;2019-09
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3