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[Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes].

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Bibliographic Details
Title: [Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes].
Authors: Chen Y; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China., Yang R; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China., Lin NE; Department of Radiology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China., Yu QX; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China., Chen X; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China., Zhang TY; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China NHC Key Laboratory of Hearing Medicine (Fudan University), Shanghai 200031, China., Ma J; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China Institute of Medical Genetics & Genomics, Fudan University, Shanghai 200032, China.
Source: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery [Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2025 Jul 07; Vol. 60 (7), pp. 815-823.
Publication Type: English Abstract; Journal Article
Journal Info: Publisher: Zhonghua yi xue hui za zhi she Country of Publication: China NLM ID: 101247574 Publication Model: Print Cited Medium: Print ISSN: 1673-0860 (Print) Linking ISSN: 16730860 NLM ISO Abbreviation: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1673-0860
DOI:10.3760/cma.j.cn115330-20240723-00443