Etiology
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Kelly C,
Geraghty RM,
Somani BK
Curr Urol Rep
2019 May 18;20(7):36.
doi: 10.1007/s11934-019-0898-0.
PMID: 31104149
Coţofană M,
Muşat F,
Păduraru DN,
Andronic O,
Bolocan A,
Ion D
Chirurgia (Bucur)
2019 Jan-Feb;114(1):12-17.
doi: 10.21614/chirurgia.114.1.12.
PMID: 30830840
Stevens SM,
O'Connell BP,
Meyer TA
Curr Opin Otolaryngol Head Neck Surg
2015 Oct;23(5):341-7.
doi: 10.1097/MOO.0000000000000194.
PMID: 26339964
Choi SM,
Kam SC
Korean J Urol
2015 Jan;56(1):12-8.
Epub 2015 Jan 6
doi: 10.4111/kju.2015.56.1.12.
PMID: 25598932Free PMC Article
Diagnosis
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
O'Neal MA
Neurol Clin
2016 Aug;34(3):717-31.
doi: 10.1016/j.ncl.2016.04.009.
PMID: 27445250
Van Buggenhout G,
Fryns JP
Orphanet J Rare Dis
2006 Jul 10;1:26.
doi: 10.1186/1750-1172-1-26.
PMID: 16831221Free PMC Article
Jabbour SA,
Davidovici BB,
Wolf R
Clin Dermatol
2006 Jul-Aug;24(4):299-316.
doi: 10.1016/j.clindermatol.2006.04.005.
PMID: 16828412
Jones JL,
Lane JE,
Logan JJ,
Vanegas ME
South Med J
2002 Jul;95(7):753-5.
PMID: 12144083
Therapy
Lindberg E,
Bonsignore MR,
Polo-Kantola P
Sleep Med Rev
2020 Feb;49:101225.
Epub 2019 Oct 31
doi: 10.1016/j.smrv.2019.101225.
PMID: 31739179
Coţofană M,
Muşat F,
Păduraru DN,
Andronic O,
Bolocan A,
Ion D
Chirurgia (Bucur)
2019 Jan-Feb;114(1):12-17.
doi: 10.21614/chirurgia.114.1.12.
PMID: 30830840
Stevens SM,
O'Connell BP,
Meyer TA
Curr Opin Otolaryngol Head Neck Surg
2015 Oct;23(5):341-7.
doi: 10.1097/MOO.0000000000000194.
PMID: 26339964
Choi SM,
Kam SC
Korean J Urol
2015 Jan;56(1):12-8.
Epub 2015 Jan 6
doi: 10.4111/kju.2015.56.1.12.
PMID: 25598932Free PMC Article
Morley JE
Clin Geriatr Med
1999 May;15(2):211-24.
PMID: 10339629
Prognosis
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Coţofană M,
Muşat F,
Păduraru DN,
Andronic O,
Bolocan A,
Ion D
Chirurgia (Bucur)
2019 Jan-Feb;114(1):12-17.
doi: 10.21614/chirurgia.114.1.12.
PMID: 30830840
Recio Rodríguez M,
Martínez de Vega V,
Cano Alonso R,
Carrascoso Arranz J,
Martínez Ten P,
Pérez Pedregosa J
Radiographics
2012 Nov-Dec;32(7):E305-21.
doi: 10.1148/rg.327125053.
PMID: 23150864
Van Buggenhout G,
Fryns JP
Orphanet J Rare Dis
2006 Jul 10;1:26.
doi: 10.1186/1750-1172-1-26.
PMID: 16831221Free PMC Article
Morley JE
Clin Geriatr Med
1999 May;15(2):211-24.
PMID: 10339629
Clinical prediction guides
Wiel LC,
Bruno I,
Barbi E,
Sirchia F
Ital J Pediatr
2022 May 12;48(1):72.
doi: 10.1186/s13052-022-01267-w.
PMID: 35550183Free PMC Article
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Santi M,
Graf S,
Zeino M,
Cools M,
Van De Vijver K,
Trippel M,
Aliu N,
Flück CE
J Clin Endocrinol Metab
2021 Apr 23;106(5):1530-1539.
doi: 10.1210/clinem/dgaa948.
PMID: 33367768Free PMC Article
Coţofană M,
Muşat F,
Păduraru DN,
Andronic O,
Bolocan A,
Ion D
Chirurgia (Bucur)
2019 Jan-Feb;114(1):12-17.
doi: 10.21614/chirurgia.114.1.12.
PMID: 30830840
Akpunonu BE,
Mulrow PJ,
Hoffman EA
Dis Mon
1996 Oct;42(10):609-722.
doi: 10.1016/s0011-5029(96)90019-x.
PMID: 8948319