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中文Acrofacial Dysostosis 1, Nager Type (AFD1)
Alias:
Nager Syndrome
Nager Acrofacial Dysostosis
Afd1
Nafd
Mandibulofacial Dysostosis with Preaxial Limb Anomalies
Acrofacial Dysostosis, Nager Type
Preaxial Acrofacial Dysostosis
Preaxial Acrodysostosis
Mandibulofacial Dysostosis, Treacher Collins Type, with Limb Anomalies
Mandibulofacial Dysostosis Treacher Collins Type with Limb Anomalies
Nager Acrofacial Dysostosis Syndrome
Preaxial Mandibulofacial Dysostosis
Preaxial Manibulofacial Dysostosis
Dysostosis, Acrofacial, Type 1
Afd, Nager Type
Afd Nager Type
Afd
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Acrofacial Dysostosis 1, Nager Type, 也被称为Nager综合症，与发育不全和Treacher Collins综合症1有关。与Acrofacial Dysostosis 1, Nager Type相关的基因是SF3B4（剪接因子3b亚基4），其相关通路/超级通路包括处理含帽内含子的前mRNA和mRNA剪接-次要通路。在该疾病的背景下提到了Cimetidine和Pharmaceutical Solutions药物。附属组织包括骨和眼，相关表型为听力障碍和骨骼发育不良。
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