Etiology
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Gellermann J,
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Gribouval O,
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Diagnosis
Su T,
Zhu Y,
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Oral Dis
2023 Sep;29(6):2376-2393.
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Basiratnia M,
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Boerkoel CF,
O'Neill S,
André JL,
Benke PJ,
Bogdanovíć R,
Bulla M,
Burguet A,
Cockfield S,
Cordeiro I,
Ehrich JH,
Fründ S,
Geary DF,
Ieshima A,
Illies F,
Joseph MW,
Kaitila I,
Lama G,
Leheup B,
Ludman MD,
McLeod DR,
Medeira A,
Milford DV,
Ormälä T,
Rener-Primec Z,
Santava A,
Santos HG,
Schmidt B,
Smith GC,
Spranger J,
Zupancic N,
Weksberg R
Eur J Pediatr
2000 Jan-Feb;159(1-2):1-7.
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Saraiva JM,
Dinis A,
Resende C,
Faria E,
Gomes C,
Correia AJ,
Gil J,
da Fonseca N
J Med Genet
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PMID: 10528861Free PMC Article
Therapy
Bertaina A,
Grimm PC,
Weinberg K,
Parkman R,
Kristovich KM,
Barbarito G,
Lippner E,
Dhamdhere G,
Ramachandran V,
Spatz JM,
Fathallah-Shaykh S,
Atkinson TP,
Al-Uzri A,
Aubert G,
van der Elst K,
Green SG,
Agarwal R,
Slepicka PF,
Shah AJ,
Roncarolo MG,
Gallo A,
Concepcion W,
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N Engl J Med
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PMID: 35704481Free PMC Article
Gendronneau M,
Kérourédan O,
Taque S,
Sixou JL,
Bonnaure-Mallet M
Eur Arch Paediatr Dent
2014 Jun;15(3):217-21.
Epub 2013 Dec 11
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Baradaran-Heravi A,
Lange J,
Asakura Y,
Cochat P,
Massella L,
Boerkoel CF
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2013 Oct;161A(10):2609-13.
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Pediatr Transplant
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Basiratnia M,
Fallahzadeh MH
Saudi Med J
2007 Mar;28(3):457-60.
PMID: 17334480
Prognosis
Lipska-Ziętkiewicz BS,
Gellermann J,
Boyer O,
Gribouval O,
Ziętkiewicz S,
Kari JA,
Shalaby MA,
Ozaltin F,
Dusek J,
Melk A,
Bayazit AK,
Massella L,
Hyla-Klekot L,
Habbig S,
Godron A,
Szczepańska M,
Bieniaś B,
Drożdż D,
Odeh R,
Jarmużek W,
Zachwieja K,
Trautmann A,
Antignac C,
Schaefer F;
PodoNet Consortium
PLoS One
2017;12(8):e0180926.
Epub 2017 Aug 10
doi: 10.1371/journal.pone.0180926.
PMID: 28796785Free PMC Article
Gendronneau M,
Kérourédan O,
Taque S,
Sixou JL,
Bonnaure-Mallet M
Eur Arch Paediatr Dent
2014 Jun;15(3):217-21.
Epub 2013 Dec 11
doi: 10.1007/s40368-013-0099-3.
PMID: 24327104Free PMC Article
Baradaran-Heravi A,
Lange J,
Asakura Y,
Cochat P,
Massella L,
Boerkoel CF
Am J Med Genet A
2013 Oct;161A(10):2609-13.
Epub 2013 Aug 15
doi: 10.1002/ajmg.a.36111.
PMID: 23950031Free PMC Article
Basiratnia M,
Fallahzadeh MH
Saudi Med J
2007 Mar;28(3):457-60.
PMID: 17334480
Boerkoel CF,
O'Neill S,
André JL,
Benke PJ,
Bogdanovíć R,
Bulla M,
Burguet A,
Cockfield S,
Cordeiro I,
Ehrich JH,
Fründ S,
Geary DF,
Ieshima A,
Illies F,
Joseph MW,
Kaitila I,
Lama G,
Leheup B,
Ludman MD,
McLeod DR,
Medeira A,
Milford DV,
Ormälä T,
Rener-Primec Z,
Santava A,
Santos HG,
Schmidt B,
Smith GC,
Spranger J,
Zupancic N,
Weksberg R
Eur J Pediatr
2000 Jan-Feb;159(1-2):1-7.
doi: 10.1007/s004310050001.
PMID: 10653321
Clinical prediction guides
Bansal R,
Hussain S,
Chanana UB,
Bisht D,
Goel I,
Muthuswami R
IUBMB Life
2020 Oct;72(10):2080-2096.
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Prato G,
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Cordani R,
Giacomini T,
Pisciotta L,
Uccella S,
Severino M,
Tortora D,
Pavanello M,
Bertamino M,
Verrina E,
Caridi G,
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Brain Dev
2020 May;42(5):408-413.
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PMID: 32115305
Baradaran-Heravi A,
Lange J,
Asakura Y,
Cochat P,
Massella L,
Boerkoel CF
Am J Med Genet A
2013 Oct;161A(10):2609-13.
Epub 2013 Aug 15
doi: 10.1002/ajmg.a.36111.
PMID: 23950031Free PMC Article
Deguchi K,
Clewing JM,
Elizondo LI,
Hirano R,
Huang C,
Choi K,
Sloan EA,
Lücke T,
Marwedel KM,
Powell RD Jr,
Santa Cruz K,
Willaime-Morawek S,
Inoue K,
Lou S,
Northrop JL,
Kanemura Y,
van der Kooy D,
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Boerkoel CF
J Neuropathol Exp Neurol
2008 Jun;67(6):565-77.
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PMID: 18520775
Stiehm ER
Pediatr Res
1993 Jan;33(1 Suppl):S2-7; discussion S7-8.
doi: 10.1203/00006450-199305001-00007.
PMID: 8433870