Etiology
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Kapferer-Seebacher I,
Kazkaz H,
Kosho T,
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Diagnosis
Gensemer C,
Burks R,
Kautz S,
Judge DP,
Lavallee M,
Norris RA
Dev Dyn
2021 Mar;250(3):318-344.
Epub 2020 Aug 17
doi: 10.1002/dvdy.220.
PMID: 32629534Free PMC Article
Malfait F,
Castori M,
Francomano CA,
Giunta C,
Kosho T,
Byers PH
Nat Rev Dis Primers
2020 Jul 30;6(1):64.
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PMID: 32732924
Malfait F,
Francomano C,
Byers P,
Belmont J,
Berglund B,
Black J,
Bloom L,
Bowen JM,
Brady AF,
Burrows NP,
Castori M,
Cohen H,
Colombi M,
Demirdas S,
De Backer J,
De Paepe A,
Fournel-Gigleux S,
Frank M,
Ghali N,
Giunta C,
Grahame R,
Hakim A,
Jeunemaitre X,
Johnson D,
Juul-Kristensen B,
Kapferer-Seebacher I,
Kazkaz H,
Kosho T,
Lavallee ME,
Levy H,
Mendoza-Londono R,
Pepin M,
Pope FM,
Reinstein E,
Robert L,
Rohrbach M,
Sanders L,
Sobey GJ,
Van Damme T,
Vandersteen A,
van Mourik C,
Voermans N,
Wheeldon N,
Zschocke J,
Tinkle B
Am J Med Genet C Semin Med Genet
2017 Mar;175(1):8-26.
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PMID: 28306229
Bowen JM,
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Colombi M,
Lavallee ME,
Malfait F,
Francomano CA
Am J Med Genet C Semin Med Genet
2017 Mar;175(1):27-39.
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Tinkle B,
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Am J Med Genet C Semin Med Genet
2017 Mar;175(1):48-69.
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Therapy
Reychler G,
De Backer MM,
Piraux E,
Poncin W,
Caty G
Am J Med Genet A
2021 Oct;185(10):2986-2994.
Epub 2021 Jun 19
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O'Shea KM,
Aceves SS,
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Gastroenterology
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Scheper MC,
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Am J Med Genet C Semin Med Genet
2017 Mar;175(1):158-167.
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Plouin PF,
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Mantle D,
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Prognosis
Monaco A,
Choi D,
Uzun S,
Maitland A,
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Immunol Res
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Eagleton MJ
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Frank M,
Albuisson J,
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Golmard L,
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Fauret AL,
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Denarié N,
Mousseaux E,
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Plouin PF,
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Orphanet J Rare Dis
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Loeys BL,
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Thomas GH,
Pannu H,
De Backer JF,
Oswald GL,
Symoens S,
Manouvrier S,
Roberts AE,
Faravelli F,
Greco MA,
Pyeritz RE,
Milewicz DM,
Coucke PJ,
Cameron DE,
Braverman AC,
Byers PH,
De Paepe AM,
Dietz HC
N Engl J Med
2006 Aug 24;355(8):788-98.
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Clinical prediction guides
Tofts LJ,
Simmonds J,
Schwartz SB,
Richheimer RM,
O'Connor C,
Elias E,
Engelbert R,
Cleary K,
Tinkle BT,
Kline AD,
Hakim AJ,
van Rossum MAJ,
Pacey V
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Venable E,
Knight DRT,
Thoreson EK,
Baudhuin LM
Am J Med Genet C Semin Med Genet
2023 Jun;193(2):147-159.
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PMID: 36896471
Reychler G,
De Backer MM,
Piraux E,
Poncin W,
Caty G
Am J Med Genet A
2021 Oct;185(10):2986-2994.
Epub 2021 Jun 19
doi: 10.1002/ajmg.a.62393.
PMID: 34145717
Malfait F,
Wenstrup RJ,
De Paepe A
Genet Med
2010 Oct;12(10):597-605.
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PMID: 20847697
Loeys BL,
Schwarze U,
Holm T,
Callewaert BL,
Thomas GH,
Pannu H,
De Backer JF,
Oswald GL,
Symoens S,
Manouvrier S,
Roberts AE,
Faravelli F,
Greco MA,
Pyeritz RE,
Milewicz DM,
Coucke PJ,
Cameron DE,
Braverman AC,
Byers PH,
De Paepe AM,
Dietz HC
N Engl J Med
2006 Aug 24;355(8):788-98.
doi: 10.1056/NEJMoa055695.
PMID: 16928994