Etiology
Stephenson KAJ,
Whelan L,
Zhu J,
Dockery A,
Wynne NC,
Cairns RM,
Kirk C,
Turner J,
Duignan ES,
O'Byrne JJ,
Silvestri G,
Kenna PF,
Farrar GJ,
Keegan DJ
Invest Ophthalmol Vis Sci
2023 Jul 3;64(10):23.
doi: 10.1167/iovs.64.10.23.
PMID: 37466950Free PMC Article
Koohiyan M,
Koohian F,
Azadegan-Dehkordi F
Ann Hum Genet
2020 Mar;84(2):107-113.
Epub 2019 Sep 11
doi: 10.1111/ahg.12354.
PMID: 31512227
Liang Y,
Peng Q,
Wang K,
Zhu P,
Wu C,
Rao C,
Chang J,
Li S,
Lu X
Int J Pediatr Otorhinolaryngol
2018 Apr;107:97-100.
Epub 2018 Jan 31
doi: 10.1016/j.ijporl.2018.01.037.
PMID: 29501320
Koohiyan M,
Hashemzadeh-Chaleshtori M,
Salehi M,
Abtahi H,
Reiisi S,
Pourreza MR,
Noori-Daloii MR,
Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol
2018 Apr;107:121-126.
Epub 2018 Jan 31
doi: 10.1016/j.ijporl.2018.01.012.
PMID: 29501291
Pater JA,
Benteau T,
Griffin A,
Penney C,
Stanton SG,
Predham S,
Kielley B,
Squires J,
Zhou J,
Li Q,
Abdelfatah N,
O'Rielly DD,
Young TL
Hum Genet
2017 Jan;136(1):107-118.
Epub 2016 Nov 12
doi: 10.1007/s00439-016-1746-7.
PMID: 27838790Free PMC Article
Diagnosis
Stephenson KAJ,
Whelan L,
Zhu J,
Dockery A,
Wynne NC,
Cairns RM,
Kirk C,
Turner J,
Duignan ES,
O'Byrne JJ,
Silvestri G,
Kenna PF,
Farrar GJ,
Keegan DJ
Invest Ophthalmol Vis Sci
2023 Jul 3;64(10):23.
doi: 10.1167/iovs.64.10.23.
PMID: 37466950Free PMC Article
Asaad M,
Mahfood M,
Al Mutery A,
Tlili A
Hum Genomics
2023 May 15;17(1):42.
doi: 10.1186/s40246-023-00489-1.
PMID: 37189200Free PMC Article
Chapla A,
Johnson J,
Korula S,
Mohan N,
Ahmed A,
Varghese D,
Rangasamy P,
Ravichandran L,
Jebasingh F,
Kumar Agrawal K,
Somasundaram N,
Hesarghatta Shyamasunder A,
Mathai S,
Simon A,
Jha S,
Chowdry S,
Venkatesan R,
Raghupathy P,
Thomas N
J Clin Endocrinol Metab
2022 Apr 19;107(5):1328-1336.
doi: 10.1210/clinem/dgac002.
PMID: 35018440
Roman TS,
Crowley SB,
Roche MI,
Foreman AKM,
O'Daniel JM,
Seifert BA,
Lee K,
Brandt A,
Gustafson C,
DeCristo DM,
Strande NT,
Ramkissoon L,
Milko LV,
Owen P,
Roy S,
Xiong M,
Paquin RS,
Butterfield RM,
Lewis MA,
Souris KJ,
Bailey DB Jr,
Rini C,
Booker JK,
Powell BC,
Weck KE,
Powell CM,
Berg JS
Am J Hum Genet
2020 Oct 1;107(4):596-611.
Epub 2020 Aug 26
doi: 10.1016/j.ajhg.2020.08.001.
PMID: 32853555Free PMC Article
Koohiyan M,
Hashemzadeh-Chaleshtori M,
Salehi M,
Abtahi H,
Reiisi S,
Pourreza MR,
Noori-Daloii MR,
Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol
2018 Apr;107:121-126.
Epub 2018 Jan 31
doi: 10.1016/j.ijporl.2018.01.012.
PMID: 29501291
Therapy
Akturk HK,
Yasa S
Pediatr Endocrinol Diabetes Metab
2017;23(2):107-110.
doi: 10.18544/PEDM-23.02.0081.
PMID: 29073294
Prognosis
Asaad M,
Mahfood M,
Al Mutery A,
Tlili A
Hum Genomics
2023 May 15;17(1):42.
doi: 10.1186/s40246-023-00489-1.
PMID: 37189200Free PMC Article
Liang Y,
Peng Q,
Wang K,
Zhu P,
Wu C,
Rao C,
Chang J,
Li S,
Lu X
Int J Pediatr Otorhinolaryngol
2018 Apr;107:97-100.
Epub 2018 Jan 31
doi: 10.1016/j.ijporl.2018.01.037.
PMID: 29501320
Clinical prediction guides
Asaad M,
Mahfood M,
Al Mutery A,
Tlili A
Hum Genomics
2023 May 15;17(1):42.
doi: 10.1186/s40246-023-00489-1.
PMID: 37189200Free PMC Article
Daneshi A,
Farhadi M,
Ajalloueyan M,
Rajati M,
Hashemi SB,
Ghasemi MM,
Emamdjomeh H,
Asghari A,
Mohseni M,
Mohebbi S,
Hosseinzadeh F,
Mirsalehi M
Int J Pediatr Otorhinolaryngol
2020 May;132:109901.
Epub 2020 Jan 22
doi: 10.1016/j.ijporl.2020.109901.
PMID: 32006863
Liang Y,
Peng Q,
Wang K,
Zhu P,
Wu C,
Rao C,
Chang J,
Li S,
Lu X
Int J Pediatr Otorhinolaryngol
2018 Apr;107:97-100.
Epub 2018 Jan 31
doi: 10.1016/j.ijporl.2018.01.037.
PMID: 29501320
Koohiyan M,
Hashemzadeh-Chaleshtori M,
Salehi M,
Abtahi H,
Reiisi S,
Pourreza MR,
Noori-Daloii MR,
Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol
2018 Apr;107:121-126.
Epub 2018 Jan 31
doi: 10.1016/j.ijporl.2018.01.012.
PMID: 29501291
Greinwald JH Jr,
Wayne S,
Chen AH,
Scott DA,
Zbar RI,
Kraft ML,
Prasad S,
Ramesh A,
Coucke P,
Srisailapathy CR,
Lovett M,
Van Camp G,
Smith RJ
Am J Med Genet
1998 Jun 30;78(2):107-13.
PMID: 9674898