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A review of craniofacial and dental findings of the RASopathies.

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机构: [1]Department of Oral and Maxillofacial Surgery, State Key Laboratory of Oral Diseases and Branch of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, China [2]Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA [3]Department of Pediatrics and Institute for Medical Genetics, University of California, San Francisco, San Francisco, CA, USA
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关键词: craniofacial development dental anomalies malocclusion Ras/MAPK pathway RASopathy

摘要:
The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Although the craniofacial features have been well described and can aid in clinical diagnosis, the dental phenotypes have not been analysed in detail for each of the RASopathies. In this review, we summarize the clinical features of the RASopathies, highlighting the reported craniofacial and dental findings. Review of the literature. Each of the RASopathies reviewed, caused by mutations in genes that encode different proteins in the Ras pathway, have unique and overlapping craniofacial and dental characteristics. Careful description of craniofacial and dental features of the RASopathies can provide information for dental clinicians treating these individuals and can also give insight into the role of Ras signalling in craniofacial development. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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出版当年[2017]版:
大类 | 4 区 医学
小类 | 4 区 牙科与口腔外科
最新[2023]版:
大类 | 3 区 医学
小类 | 3 区 牙科与口腔外科
第一作者:
第一作者机构: [1]Department of Oral and Maxillofacial Surgery, State Key Laboratory of Oral Diseases and Branch of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, China [2]Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA
通讯作者:
通讯机构: [2]Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA [*1]University of California, San Francisco, San Francisco, CA, USA. [*2]University of California, San Francisco, San Francisco, CA, USA.
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