Etiology
Bardhan A,
Bruckner-Tuderman L,
Chapple ILC,
Fine JD,
Harper N,
Has C,
Magin TM,
Marinkovich MP,
Marshall JF,
McGrath JA,
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Polson R,
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Dinarvand P,
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Arch Pathol Lab Med
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Clarke AJ,
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Tadini G,
Pagnan N,
Visinoni AF,
Bergendal B,
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Acta Derm Venereol
2019 Apr 1;99(4):360-369.
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Ghiorzo P
Cancer Metastasis Rev
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Diagnosis
Bardhan A,
Bruckner-Tuderman L,
Chapple ILC,
Fine JD,
Harper N,
Has C,
Magin TM,
Marinkovich MP,
Marshall JF,
McGrath JA,
Mellerio JE,
Polson R,
Heagerty AH
Nat Rev Dis Primers
2020 Sep 24;6(1):78.
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Hirbe AC,
Gutmann DH
Lancet Neurol
2014 Aug;13(8):834-43.
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Ferner RE,
Gutmann DH
Handb Clin Neurol
2013;115:939-55.
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Asthagiri AR,
Parry DM,
Butman JA,
Kim HJ,
Tsilou ET,
Zhuang Z,
Lonser RR
Lancet
2009 Jun 6;373(9679):1974-86.
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Patel S,
Zirwas M,
English JC 3rd
Am J Clin Dermatol
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Therapy
Rao L,
Wu L,
Liu Z,
Tian R,
Yu G,
Zhou Z,
Yang K,
Xiong HG,
Zhang A,
Yu GT,
Sun W,
Xu H,
Guo J,
Li A,
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Nat Commun
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Prodinger C,
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Exp Dermatol
2019 Oct;28(10):1176-1189.
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Craiglow BG,
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McCarthy C,
Luna P,
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Humphrey S,
Holland KE,
Hogeling M,
Hidalgo-Matlock B,
Ferrari B,
Fernandez-Faith E,
Drolet B,
Cordoro KM,
Bowcock AM,
Antaya RJ,
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Ashack RJ,
Lifton RP,
Milstone LM,
Paller AS,
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J Am Acad Dermatol
2018 Sep;79(3):487-494.
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Shono Y,
Docampo MD,
Peled JU,
Perobelli SM,
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Int J Hematol
2015 May;101(5):428-37.
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Hirbe AC,
Gutmann DH
Lancet Neurol
2014 Aug;13(8):834-43.
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Prognosis
Stephenson SEM,
Costain G,
Blok LER,
Silk MA,
Nguyen TB,
Dong X,
Alhuzaimi DE,
Dowling JJ,
Walker S,
Amburgey K,
Hayeems RZ,
Rodan LH,
Schwartz MA,
Picker J,
Lynch SA,
Gupta A,
Rasmussen KJ,
Schimmenti LA,
Klee EW,
Niu Z,
Agre KE,
Chilton I,
Chung WK,
Revah-Politi A,
Au PYB,
Griffith C,
Racobaldo M,
Raas-Rothschild A,
Ben Zeev B,
Barel O,
Moutton S,
Morice-Picard F,
Carmignac V,
Cornaton J,
Marle N,
Devinsky O,
Stimach C,
Wechsler SB,
Hainline BE,
Sapp K,
Willems M,
Bruel AL,
Dias KR,
Evans CA,
Roscioli T,
Sachdev R,
Temple SEL,
Zhu Y,
Baker JJ,
Scheffer IE,
Gardiner FJ,
Schneider AL,
Muir AM,
Mefford HC,
Crunk A,
Heise EM,
Millan F,
Monaghan KG,
Person R,
Rhodes L,
Richards S,
Wentzensen IM,
Cogné B,
Isidor B,
Nizon M,
Vincent M,
Besnard T,
Piton A,
Marcelis C,
Kato K,
Koyama N,
Ogi T,
Goh ES,
Richmond C,
Amor DJ,
Boyce JO,
Morgan AT,
Hildebrand MS,
Kaspi A,
Bahlo M,
Friðriksdóttir R,
Katrínardóttir H,
Sulem P,
Stefánsson K,
Björnsson HT,
Mandelstam S,
Morleo M,
Mariani M;
TUDP Study Group,
Scala M,
Accogli A,
Torella A,
Capra V,
Wallis M,
Jansen S,
Weisfisz Q,
de Haan H,
Sadedin S;
Broad Center for Mendelian Genomics,
Lim SC,
White SM,
Ascher DB,
Schenck A,
Lockhart PJ,
Christodoulou J,
Tan TY
Am J Hum Genet
2022 Apr 7;109(4):601-617.
doi: 10.1016/j.ajhg.2022.03.002.
PMID: 35395208Free PMC Article
Bardhan A,
Bruckner-Tuderman L,
Chapple ILC,
Fine JD,
Harper N,
Has C,
Magin TM,
Marinkovich MP,
Marshall JF,
McGrath JA,
Mellerio JE,
Polson R,
Heagerty AH
Nat Rev Dis Primers
2020 Sep 24;6(1):78.
doi: 10.1038/s41572-020-0210-0.
PMID: 32973163
Dinarvand P,
Davaro EP,
Doan JV,
Ising ME,
Evans NR,
Phillips NJ,
Lai J,
Guzman MA
Arch Pathol Lab Med
2019 Nov;143(11):1382-1398.
Epub 2019 May 9
doi: 10.5858/arpa.2018-0570-RA.
PMID: 31070935
Espiard S,
Bertherat J
Front Horm Res
2013;41:50-62.
Epub 2013 Mar 19
doi: 10.1159/000345669.
PMID: 23652670
Asthagiri AR,
Parry DM,
Butman JA,
Kim HJ,
Tsilou ET,
Zhuang Z,
Lonser RR
Lancet
2009 Jun 6;373(9679):1974-86.
Epub 2009 May 22
doi: 10.1016/S0140-6736(09)60259-2.
PMID: 19476995Free PMC Article
Clinical prediction guides
Stephenson SEM,
Costain G,
Blok LER,
Silk MA,
Nguyen TB,
Dong X,
Alhuzaimi DE,
Dowling JJ,
Walker S,
Amburgey K,
Hayeems RZ,
Rodan LH,
Schwartz MA,
Picker J,
Lynch SA,
Gupta A,
Rasmussen KJ,
Schimmenti LA,
Klee EW,
Niu Z,
Agre KE,
Chilton I,
Chung WK,
Revah-Politi A,
Au PYB,
Griffith C,
Racobaldo M,
Raas-Rothschild A,
Ben Zeev B,
Barel O,
Moutton S,
Morice-Picard F,
Carmignac V,
Cornaton J,
Marle N,
Devinsky O,
Stimach C,
Wechsler SB,
Hainline BE,
Sapp K,
Willems M,
Bruel AL,
Dias KR,
Evans CA,
Roscioli T,
Sachdev R,
Temple SEL,
Zhu Y,
Baker JJ,
Scheffer IE,
Gardiner FJ,
Schneider AL,
Muir AM,
Mefford HC,
Crunk A,
Heise EM,
Millan F,
Monaghan KG,
Person R,
Rhodes L,
Richards S,
Wentzensen IM,
Cogné B,
Isidor B,
Nizon M,
Vincent M,
Besnard T,
Piton A,
Marcelis C,
Kato K,
Koyama N,
Ogi T,
Goh ES,
Richmond C,
Amor DJ,
Boyce JO,
Morgan AT,
Hildebrand MS,
Kaspi A,
Bahlo M,
Friðriksdóttir R,
Katrínardóttir H,
Sulem P,
Stefánsson K,
Björnsson HT,
Mandelstam S,
Morleo M,
Mariani M;
TUDP Study Group,
Scala M,
Accogli A,
Torella A,
Capra V,
Wallis M,
Jansen S,
Weisfisz Q,
de Haan H,
Sadedin S;
Broad Center for Mendelian Genomics,
Lim SC,
White SM,
Ascher DB,
Schenck A,
Lockhart PJ,
Christodoulou J,
Tan TY
Am J Hum Genet
2022 Apr 7;109(4):601-617.
doi: 10.1016/j.ajhg.2022.03.002.
PMID: 35395208Free PMC Article
Zaballos P,
Gómez-Martín I,
Martin JM,
Bañuls J
Dermatol Clin
2018 Oct;36(4):397-412.
Epub 2018 Aug 16
doi: 10.1016/j.det.2018.05.007.
PMID: 30201149
Philpott C,
Tovell H,
Frayling IM,
Cooper DN,
Upadhyaya M
Hum Genomics
2017 Jun 21;11(1):13.
doi: 10.1186/s40246-017-0109-3.
PMID: 28637487Free PMC Article
Leachman SA,
Lucero OM,
Sampson JE,
Cassidy P,
Bruno W,
Queirolo P,
Ghiorzo P
Cancer Metastasis Rev
2017 Mar;36(1):77-90.
doi: 10.1007/s10555-017-9661-5.
PMID: 28283772Free PMC Article
Espiard S,
Bertherat J
Front Horm Res
2013;41:50-62.
Epub 2013 Mar 19
doi: 10.1159/000345669.
PMID: 23652670