Etiology
Deng L,
Yang X,
Cheng X,
Wen C,
Yu Y,
Li Y,
Gao S,
Liu H,
Liu D,
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Xie J,
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Am J Otolaryngol
2025 Jan-Feb;46(1):104573.
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Pediatr Nephrol
2025 Feb;40(2):393-405.
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Am J Otolaryngol
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Int J Pediatr Otorhinolaryngol
2018 Sep;112:188-192.
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McGee TL,
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J Med Genet
2010 Jul;47(7):499-506.
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Diagnosis
Deng L,
Yang X,
Cheng X,
Wen C,
Yu Y,
Li Y,
Gao S,
Liu H,
Liu D,
Ruan Y,
Xie J,
En H,
Xian J,
Huang L
Am J Otolaryngol
2025 Jan-Feb;46(1):104573.
Epub 2024 Dec 20
doi: 10.1016/j.amjoto.2024.104573.
PMID: 39740534
Yadav M,
Jadon T,
Singh G,
Devi KG,
Chandan M,
Khandelwal P,
Meena J,
Geetha TS,
Faruq M,
Hari P,
Sinha A,
Bagga A
Pediatr Nephrol
2025 Feb;40(2):393-405.
Epub 2024 Sep 16
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PMID: 39278986
Köse E,
Kasapkara ÇS,
İnci A,
Yıldız Y,
Sürücü Kara İ,
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Eur J Med Genet
2024 Apr;68:104927.
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Dia Y,
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Aboagye ET,
Ba SA,
Touré AA,
Niang F,
Diaga Sarr P,
Tidiane Ly CA,
Sène ARG,
Kock C,
Bassier R,
Popel K,
Ndiaye Diallo R,
Wonkam A,
Diallo BK
Genes (Basel)
2023 Feb 23;14(3)
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PMID: 36980833Free PMC Article
McGee TL,
Seyedahmadi BJ,
Sweeney MO,
Dryja TP,
Berson EL
J Med Genet
2010 Jul;47(7):499-506.
Epub 2010 May 27
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PMID: 20507924Free PMC Article
Therapy
Lv J,
Wang H,
Cheng X,
Chen Y,
Wang D,
Zhang L,
Cao Q,
Tang H,
Hu S,
Gao K,
Xun M,
Wang J,
Wang Z,
Zhu B,
Cui C,
Gao Z,
Guo L,
Yu S,
Jiang L,
Yin Y,
Zhang J,
Chen B,
Wang W,
Chai R,
Chen ZY,
Li H,
Shu Y
Lancet
2024 May 25;403(10441):2317-2325.
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Nasser H,
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Steindl K,
Letard P,
Teissier N,
Ernault A,
Guimiot F,
Afenjar A,
Moutard ML,
Héron D,
Alembik Y,
Momtchilova M,
Milani P,
Kubis N,
Pouvreau N,
Zollino M,
Guilmin Crepon S,
Kaguelidou F,
Gressens P,
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J Med Genet
2020 Jun;57(6):389-399.
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Boerwinkle C,
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Pediatr Pulmonol
2017 Apr;52(4):487-493.
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Taniguchi M,
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Nakayama A,
Suzuki K,
Hamajima N,
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J Hum Genet
2015 Oct;60(10):613-7.
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PMID: 26178431Free PMC Article
Prognosis
Deng L,
Yang X,
Cheng X,
Wen C,
Yu Y,
Li Y,
Gao S,
Liu H,
Liu D,
Ruan Y,
Xie J,
En H,
Xian J,
Huang L
Am J Otolaryngol
2025 Jan-Feb;46(1):104573.
Epub 2024 Dec 20
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PMID: 39740534
Salzano G,
Rigoli L,
Valenzise M,
Chimenz R,
Passanisi S,
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Int J Environ Res Public Health
2022 Jan 4;19(1)
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Pérez-Carro R,
Blanco-Kelly F,
Galbis-Martínez L,
García-García G,
Aller E,
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Mínguez P,
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PLoS One
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Taniguchi M,
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Nakayama A,
Suzuki K,
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J Hum Genet
2015 Oct;60(10):613-7.
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Kim SY,
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PLoS One
2015;10(6):e0125416.
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Clinical prediction guides
Köse E,
Kasapkara ÇS,
İnci A,
Yıldız Y,
Sürücü Kara İ,
Kahraman AB,
Tümer L,
Dursun A,
Eminoğlu FT
Eur J Med Genet
2024 Apr;68:104927.
Epub 2024 Feb 19
doi: 10.1016/j.ejmg.2024.104927.
PMID: 38382588
Lv J,
Wang H,
Cheng X,
Chen Y,
Wang D,
Zhang L,
Cao Q,
Tang H,
Hu S,
Gao K,
Xun M,
Wang J,
Wang Z,
Zhu B,
Cui C,
Gao Z,
Guo L,
Yu S,
Jiang L,
Yin Y,
Zhang J,
Chen B,
Wang W,
Chai R,
Chen ZY,
Li H,
Shu Y
Lancet
2024 May 25;403(10441):2317-2325.
Epub 2024 Jan 24
doi: 10.1016/S0140-6736(23)02874-X.
PMID: 38280389
Dia Y,
Loum B,
Dieng YJKB,
Diop JPD,
Adadey SM,
Aboagye ET,
Ba SA,
Touré AA,
Niang F,
Diaga Sarr P,
Tidiane Ly CA,
Sène ARG,
Kock C,
Bassier R,
Popel K,
Ndiaye Diallo R,
Wonkam A,
Diallo BK
Genes (Basel)
2023 Feb 23;14(3)
doi: 10.3390/genes14030562.
PMID: 36980833Free PMC Article
Ali G,
Lee K,
Andrade PB,
Basit S,
Santos-Cortez RL,
Chen L,
Jelani M,
Ansar M,
Ahmad W,
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Hum Hered
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Ansar M,
Chahrour MH,
Amin Ud Din M,
Arshad M,
Haque S,
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Yan K,
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