Etiology
Bowles B,
Ferrer A,
Nishimura CJ,
Pinto E Vairo F,
Rey T,
Leheup B,
Sullivan J,
Schoch K,
Stong N,
Agolini E,
Cocciadiferro D,
Williams A,
Cummings A,
Loddo S,
Genovese S,
Roadhouse C,
McWalter K;
Undiagnosed Diseases Network,
Wentzensen IM,
Li C,
Babovic-Vuksanovic D,
Lanpher BC,
Dentici ML,
Ankala A,
Hamm JA,
Dallapiccola B,
Radio FC,
Shashi V,
Gérard B,
Bloch-Zupan A,
Smith RJ,
Klee EW
Am J Med Genet A
2021 Aug;185(8):2417-2433.
Epub 2021 May 27
doi: 10.1002/ajmg.a.62347.
PMID: 34042254Free PMC Article
Sato TS,
Handa A,
Priya S,
Watal P,
Becker RM,
Sato Y
Radiographics
2019 Nov-Dec;39(7):2085-2102.
doi: 10.1148/rg.2019190086.
PMID: 31697622
Terrinoni A,
Serra V,
Bruno E,
Strasser A,
Valente E,
Flores ER,
van Bokhoven H,
Lu X,
Knight RA,
Melino G
Proc Natl Acad Sci U S A
2013 Apr 30;110(18):7300-5.
Epub 2013 Apr 15
doi: 10.1073/pnas.1214498110.
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Enei ML,
Cassettari A,
Córdova S,
Torres O,
Paschoal F
An Bras Dermatol
2011 Jul-Aug;86(4):819-21.
doi: 10.1590/s0365-05962011000400037.
PMID: 21987161
Akhyani M,
Kiavash K
Indian J Dermatol Venereol Leprol
2007 Nov-Dec;73(6):409-11.
doi: 10.4103/0378-6323.37060.
PMID: 18032861
Diagnosis
Bowles B,
Ferrer A,
Nishimura CJ,
Pinto E Vairo F,
Rey T,
Leheup B,
Sullivan J,
Schoch K,
Stong N,
Agolini E,
Cocciadiferro D,
Williams A,
Cummings A,
Loddo S,
Genovese S,
Roadhouse C,
McWalter K;
Undiagnosed Diseases Network,
Wentzensen IM,
Li C,
Babovic-Vuksanovic D,
Lanpher BC,
Dentici ML,
Ankala A,
Hamm JA,
Dallapiccola B,
Radio FC,
Shashi V,
Gérard B,
Bloch-Zupan A,
Smith RJ,
Klee EW
Am J Med Genet A
2021 Aug;185(8):2417-2433.
Epub 2021 May 27
doi: 10.1002/ajmg.a.62347.
PMID: 34042254Free PMC Article
Jen M,
Nallasamy S
Clin Dermatol
2016 Mar-Apr;34(2):242-75.
Epub 2015 Dec 2
doi: 10.1016/j.clindermatol.2015.11.008.
PMID: 26903188
Almashraki N,
Abdulnabee MZ,
Sukalo M,
Alrajoudi A,
Sharafadeen I,
Zenker M
World J Gastroenterol
2011 Oct 7;17(37):4247-50.
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Bennàssar A,
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Grimalt R
World J Pediatr
2011 May;7(2):111-7.
Epub 2011 May 15
doi: 10.1007/s12519-011-0262-z.
PMID: 21574026
Caceres-Rios H,
Tamayo-Sanchez L,
Duran-Mckinster C,
de la Luz Orozco M,
Ruiz-Maldonado R
Pediatr Dermatol
1996 Mar-Apr;13(2):105-13.
doi: 10.1111/j.1525-1470.1996.tb01414.x.
PMID: 9122065
Therapy
Mc Lean K,
Bignotti S,
Callea M,
Cammarata-Scalisi F,
Steger B,
Armstrong D,
Lagan M,
Sinton J,
Semeraro F,
Kaye SB,
Romano V,
Willoughby CE
Ophthalmic Genet
2024 Feb;45(1):16-22.
Epub 2024 Jan 26
doi: 10.1080/13816810.2023.2258218.
PMID: 37755702
Tuli G,
Buganza R,
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Einaudi S,
Matarazzo P,
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Endocrine
2020 Feb;67(2):457-465.
Epub 2019 Nov 8
doi: 10.1007/s12020-019-02128-z.
PMID: 31705387
Matarazzo P,
Tuli G,
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Feyles F,
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J Pediatr Endocrinol Metab
2014 Jan;27(1-2):53-9.
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Pediatr Dermatol
2012 May-Jun;29(3):349-57.
Epub 2011 Oct 20
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PMID: 22011219
Messmer EM,
Kenyon KR,
Rittinger O,
Janecke AR,
Kampik A
Ophthalmology
2005 Feb;112(2):e1-6.
doi: 10.1016/j.ophtha.2004.07.034.
PMID: 15691545
Prognosis
Mc Lean K,
Bignotti S,
Callea M,
Cammarata-Scalisi F,
Steger B,
Armstrong D,
Lagan M,
Sinton J,
Semeraro F,
Kaye SB,
Romano V,
Willoughby CE
Ophthalmic Genet
2024 Feb;45(1):16-22.
Epub 2024 Jan 26
doi: 10.1080/13816810.2023.2258218.
PMID: 37755702
Moore SW
Pediatr Surg Int
2006 Apr;22(4):305-15.
Epub 2006 Mar 4
doi: 10.1007/s00383-006-1655-2.
PMID: 16518596
Kulkarni ML,
Shetty SK,
Kallambella KS,
Kulkarni PM
Indian J Pediatr
2004 Dec;71(12):1127-9.
PMID: 15630323
Wollenberg A,
Butnaru C,
Oppel T
Acta Derm Venereol
2002;82(1):55-7.
doi: 10.1080/000155502753600911.
PMID: 12013201
Caceres-Rios H,
Tamayo-Sanchez L,
Duran-Mckinster C,
de la Luz Orozco M,
Ruiz-Maldonado R
Pediatr Dermatol
1996 Mar-Apr;13(2):105-13.
doi: 10.1111/j.1525-1470.1996.tb01414.x.
PMID: 9122065
Clinical prediction guides
Winter-Paquette LM,
Al Suwaidi HH,
Sajjad Y,
Bricker L
Eur J Med Genet
2022 May;65(5):104501.
Epub 2022 Apr 1
doi: 10.1016/j.ejmg.2022.104501.
PMID: 35378319
Duan H,
Zhang D,
Cheng J,
Lu Y,
Yuan H
Mol Med Rep
2017 Dec;16(6):7915-7922.
Epub 2017 Sep 22
doi: 10.3892/mmr.2017.7590.
PMID: 28944914Free PMC Article
Almashraki N,
Abdulnabee MZ,
Sukalo M,
Alrajoudi A,
Sharafadeen I,
Zenker M
World J Gastroenterol
2011 Oct 7;17(37):4247-50.
doi: 10.3748/wjg.v17.i37.4247.
PMID: 22072859Free PMC Article
Messmer EM,
Kenyon KR,
Rittinger O,
Janecke AR,
Kampik A
Ophthalmology
2005 Feb;112(2):e1-6.
doi: 10.1016/j.ophtha.2004.07.034.
PMID: 15691545
Common JE,
Becker D,
Di WL,
Leigh IM,
O'Toole EA,
Kelsell DP
Biochem Biophys Res Commun
2002 Nov 15;298(5):651-6.
doi: 10.1016/s0006-291x(02)02517-2.
PMID: 12419304