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Acta Oto-Laryngologica Volume 133, 2013 - Issue 4
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Original Article

Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I

Tatsuo MatsunagaDepartment of Otolaryngology, Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, TokyoCorrespondence[email protected]
,
Hideki MutaiDepartment of Otolaryngology, Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, Tokyo
,
Kazunori NambaDepartment of Otolaryngology, Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, Tokyo
,
Noriko MoritaDepartment of Otolaryngology, Teikyo University School of Medicine, Tokyo
&
Sawako MasudaDepartment of Otorhinolaryngology, Institute for Clinical Research, National Mie Hospital, Tsu, Japan
Pages 345-351 | Received 19 Sep 2012, Accepted 20 Oct 2012, Published online: 20 Nov 2012

Citations (13)

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Quang Minh Le-Tran, Duc Phu Nguyen & Quang Huy Huynh. (2023) A case of Waardenburg syndrome type I with congenital sensorineural hearing loss. Acta Oto-Laryngologica Case Reports 8:1, pages 83-86.
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Jing Guan, Linwei Yin, Hongyang Wang, Guohui Chen, Cui Zhao, Dayong Wang & Qiu-Ju Wang. (2019) Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome. Acta Oto-Laryngologica 139:10, pages 870-875.
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Articles from other publishers (11)

Shu-Zhi Yang, Lei Hou, Xin Qi, Guo-Jian Wang, Sha-Sha Huang, Shan-Shan Zhang, Bang-Qing Huang, Ying Yang, Bei-Cheng Li, Shuo Liu, Pu Dai & Yu Su. (2023) A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I. World Journal of Pediatrics 19:12, pages 1203-1207.
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Jie-Yuan Jin, Lei Zeng, Bing-Bing Guo, Yi Dong, Ju-Yu Tang & Rong Xiang. (2021) Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing. Frontiers in Genetics 12.
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Maan Abdullah Albarry, Muhammad Latif, Ahdab Qasem Alreheli, Mohammed A. Awadh, Ahmad M. Almatrafi, Alia M. Albalawi & Sulman Basit. (2021) Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant. PLOS ONE 16:2, pages e0246607.
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Shuhei Morita, Ken Takeshima, Hiroyuki Ariyasu, Yasushi Furukawa, Shohei Kishimoto, Tomoya Tsuji, Shinsuke Uraki, Hiroyuki Mishima, Akira Kinoshita, Yuichi Takahashi, Hidefumi Inaba, Hiroshi Iwakura, Hiroto Furuta, Masahiro Nishi, Asako Doi, Shin-ichi Murata, Koh-ichiro Yoshiura & Takashi Akamizu. (2020) Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report. BMC Endocrine Disorders 20:1.
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Puneeth H. Somashekar, Priyanka Upadhyai, Dhanya L. Narayanan, Nutan Kamath, Shruti Bajaj, Katta M. Girisha & Anju Shukla. (2020) Phenotypic diversity and genetic complexity of PAX3 ‐related Waardenburg syndrome . American Journal of Medical Genetics Part A 182:12, pages 2951-2958.
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Shujiro B. Minami, Kiyomitsu Nara, Hideki Mutai, Noriko Morimoto, Hirokazu Sakamoto, Tetsuya Takiguchi, Kimitaka Kaga & Tatsuo Matsunaga. (2019) A clinical and genetic study of 16 Japanese families with Waardenburg syndrome. Gene 704, pages 86-90.
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Ayako Kanno, Hideki Mutai, Kazunori Namba, Noriko Morita, Atsuko Nakano, Noboru Ogahara, Tomoko Sugiuchi, Kaoru Ogawa & Tatsuo Matsunaga. (2017) Frequency and specific characteristics of the incomplete partition type III anomaly in children. The Laryngoscope 127:7, pages 1663-1669.
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J. Song, Y. Feng, F.R. Acke, P. Coucke, K. Vleminckx & I.J. Dhooge. (2016) Hearing loss in Waardenburg syndrome: a systematic review. Clinical Genetics 89:4, pages 416-425.
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Chuan Li, Rongyu Chen, Xin Fan, Jingsi Luo, Jiale Qian, Jin Wang, Bobo Xie, Yiping Shen & Shaoke Chen. (2015) EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome. BMC Medical Genetics 16:1.
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Mi-Ae Jang, Taeheon Lee, Junnam Lee, Eun-Hae Cho & Chang-Seok Ki. (2015) Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea . Annals of Laboratory Medicine 35:3, pages 362-365.
Crossref
Tatsuo Matsunaga. (2015) New Trends in Research and Clinical Practice for Congenital Hearing Loss Caused by Gene Mutations. The Japan Journal of Logopedics and Phoniatrics 56:3, pages 219-225.
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