Etiology
Hammill AM,
Boscolo E
J Clin Invest
2024 Apr 15;134(8)
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Poliner A,
Fernandez Faith E,
Blieden L,
Kelly KM,
Metry D
Pediatr Rev
2022 Sep 1;43(9):507-516.
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Priolo M,
Schanze D,
Tatton-Brown K,
Mulder PA,
Tenorio J,
Kooblall K,
Acero IH,
Alkuraya FS,
Arias P,
Bernardini L,
Bijlsma EK,
Cole T,
Coubes C,
Dapia I,
Davies S,
Di Donato N,
Elcioglu NH,
Fahrner JA,
Foster A,
González NG,
Huber I,
Iascone M,
Kaiser AS,
Kamath A,
Liebelt J,
Lynch SA,
Maas SM,
Mammì C,
Mathijssen IB,
McKee S,
Menke LA,
Mirzaa GM,
Montgomery T,
Neubauer D,
Neumann TE,
Pintomalli L,
Pisanti MA,
Plomp AS,
Price S,
Salter C,
Santos-Simarro F,
Sarda P,
Segovia M,
Shaw-Smith C,
Smithson S,
Suri M,
Valdez RM,
Van Haeringen A,
Van Hagen JM,
Zollino M,
Lapunzina P,
Thakker RV,
Zenker M,
Hennekam RC
Hum Mutat
2018 Sep;39(9):1226-1237.
Epub 2018 Jun 25
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Tiemstra JD,
Khatkhate N
Am Fam Physician
2007 Oct 1;76(7):997-1002.
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Finsterer J
Aesthetic Plast Surg
2003 May-Jun;27(3):193-204.
Epub 2003 Aug 21
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PMID: 12925861
Diagnosis
Poliner A,
Fernandez Faith E,
Blieden L,
Kelly KM,
Metry D
Pediatr Rev
2022 Sep 1;43(9):507-516.
doi: 10.1542/pir.2021-005437.
PMID: 36045161
Dwivedi T,
Gosavi M
Indian J Pathol Microbiol
2019 Jan-Mar;62(1):149-152.
doi: 10.4103/IJPM.IJPM_351_17.
PMID: 30706883
Priolo M,
Schanze D,
Tatton-Brown K,
Mulder PA,
Tenorio J,
Kooblall K,
Acero IH,
Alkuraya FS,
Arias P,
Bernardini L,
Bijlsma EK,
Cole T,
Coubes C,
Dapia I,
Davies S,
Di Donato N,
Elcioglu NH,
Fahrner JA,
Foster A,
González NG,
Huber I,
Iascone M,
Kaiser AS,
Kamath A,
Liebelt J,
Lynch SA,
Maas SM,
Mammì C,
Mathijssen IB,
McKee S,
Menke LA,
Mirzaa GM,
Montgomery T,
Neubauer D,
Neumann TE,
Pintomalli L,
Pisanti MA,
Plomp AS,
Price S,
Salter C,
Santos-Simarro F,
Sarda P,
Segovia M,
Shaw-Smith C,
Smithson S,
Suri M,
Valdez RM,
Van Haeringen A,
Van Hagen JM,
Zollino M,
Lapunzina P,
Thakker RV,
Zenker M,
Hennekam RC
Hum Mutat
2018 Sep;39(9):1226-1237.
Epub 2018 Jun 25
doi: 10.1002/humu.23563.
PMID: 29897170Free PMC Article
Tessier P,
Ciminello FS,
Wolfe SA
Scand J Plast Reconstr Surg Hand Surg
2009;43(4):177-96.
doi: 10.1080/02844310802517259.
PMID: 19401938
Garavelli L,
Mainardi PC
Orphanet J Rare Dis
2007 Oct 24;2:42.
doi: 10.1186/1750-1172-2-42.
PMID: 17958891Free PMC Article
Therapy
Dalrymple SN,
Row JH,
Gazewood J
Am Fam Physician
2023 Apr;107(4):415-420.
PMID: 37054419
Niazi S,
Gheisari M,
Moravvej H,
Doroodgar F,
Niazi F
J Cosmet Dermatol
2022 Sep;21(9):3867-3875.
Epub 2022 Jul 19
doi: 10.1111/jocd.15180.
PMID: 35751542
Turgay E,
Canat D,
Gurel MS,
Yuksel T,
Baran MF,
Demirkesen C
Clin Exp Dermatol
2009 Dec;34(8):e865-8.
doi: 10.1111/j.1365-2230.2009.03618.x.
PMID: 20055850
Tiemstra JD,
Khatkhate N
Am Fam Physician
2007 Oct 1;76(7):997-1002.
PMID: 17956069
Goldstein DS,
Pechnik S,
Moak J,
Eldadah B
Neurology
2004 Oct 26;63(8):1471-5.
doi: 10.1212/01.wnl.0000142037.06255.a8.
PMID: 15505167
Prognosis
Dalrymple SN,
Row JH,
Gazewood J
Am Fam Physician
2023 Apr;107(4):415-420.
PMID: 37054419
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Dwivedi T,
Gosavi M
Indian J Pathol Microbiol
2019 Jan-Mar;62(1):149-152.
doi: 10.4103/IJPM.IJPM_351_17.
PMID: 30706883
Tessier P,
Ciminello FS,
Wolfe SA
Scand J Plast Reconstr Surg Hand Surg
2009;43(4):177-96.
doi: 10.1080/02844310802517259.
PMID: 19401938
Tiemstra JD,
Khatkhate N
Am Fam Physician
2007 Oct 1;76(7):997-1002.
PMID: 17956069
Clinical prediction guides
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Garg P,
Bajaj S,
Sharma AK,
Narang P,
Bansal K
Radiology
2023 Feb;306(2):e220111.
doi: 10.1148/radiol.220111.
PMID: 36689346
Fabre A,
Martinez-Vinson C,
Goulet O,
Badens C
Orphanet J Rare Dis
2013 Jan 9;8:5.
doi: 10.1186/1750-1172-8-5.
PMID: 23302111Free PMC Article
Garavelli L,
Mainardi PC
Orphanet J Rare Dis
2007 Oct 24;2:42.
doi: 10.1186/1750-1172-2-42.
PMID: 17958891Free PMC Article
Slavotinek A,
Shaffer LG,
Shapira SK
J Med Genet
1999 Sep;36(9):657-63.
PMID: 10507720Free PMC Article