Etiology
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Brain Dev
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Diagnosis
Szczawińska-Popłonyk A,
Schwartzmann E,
Chmara Z,
Głukowska A,
Krysa T,
Majchrzycki M,
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Ostrowska P,
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Int J Mol Sci
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BMC Pediatr
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Michaudet C,
Malaty J
Am Fam Physician
2018 Oct 15;98(8):525-529.
PMID: 30277727
Mukherjee SB
Indian J Pediatr
2017 Apr;84(4):307-314.
Epub 2017 Jan 19
doi: 10.1007/s12098-016-2272-2.
PMID: 28101829
Tenorio J,
Arias P,
Martínez-Glez V,
Santos F,
García-Miñaur S,
Nevado J,
Lapunzina P
Orphanet J Rare Dis
2014 Sep 20;9:138.
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Therapy
Zalzal HG,
Lawlor CM
JAMA Otolaryngol Head Neck Surg
2023 Apr 1;149(4):360-367.
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PMID: 36862403
Michaudet C,
Malaty J
Am Fam Physician
2018 Oct 15;98(8):525-529.
PMID: 30277727
Mukherjee SB
Indian J Pediatr
2017 Apr;84(4):307-314.
Epub 2017 Jan 19
doi: 10.1007/s12098-016-2272-2.
PMID: 28101829
Wakeling EL,
Brioude F,
Lokulo-Sodipe O,
O'Connell SM,
Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
Temple IK,
Mackay DJ,
Netchine I
Nat Rev Endocrinol
2017 Feb;13(2):105-124.
Epub 2016 Sep 2
doi: 10.1038/nrendo.2016.138.
PMID: 27585961
Canafax DM,
Giebink GS
Ann Otol Rhinol Laryngol Suppl
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Prognosis
Zhang T,
Xu L,
Zhu H,
Ying Y,
Ding J,
Ding H,
Shi X,
He Y,
Jin X,
Xia G
Front Endocrinol (Lausanne)
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Cuinat S,
Nizon M,
Isidor B,
Stegmann A,
van Jaarsveld RH,
van Gassen KL,
van der Smagt JJ,
Volker-Touw CML,
Holwerda SJB,
Terhal PA,
Schuhmann S,
Vasileiou G,
Khalifa M,
Nugud AA,
Yasaei H,
Ousager LB,
Brasch-Andersen C,
Deb W,
Besnard T,
Simon MEH,
Amsterdam KH,
Verbeek NE,
Matalon D,
Dykzeul N,
White S,
Spiteri E,
Devriendt K,
Boogaerts A,
Willemsen M,
Brunner HG,
Sinnema M,
De Vries BBA,
Gerkes EH,
Pfundt R,
Izumi K,
Krantz ID,
Xu ZL,
Murrell JR,
Valenzuela I,
Cusco I,
Rovira-Moreno E,
Yang Y,
Bizaoui V,
Patat O,
Faivre L,
Tran-Mau-Them F,
Vitobello A,
Denommé-Pichon AS,
Philippe C,
Bezieau S,
Cogné B
Genet Med
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PMID: 35567594
Strehlow V,
Heyne HO,
Vlaskamp DRM,
Marwick KFM,
Rudolf G,
de Bellescize J,
Biskup S,
Brilstra EH,
Brouwer OF,
Callenbach PMC,
Hentschel J,
Hirsch E,
Kind PC,
Mignot C,
Platzer K,
Rump P,
Skehel PA,
Wyllie DJA,
Hardingham GE,
van Ravenswaaij-Arts CMA,
Lesca G,
Lemke JR;
GRIN2A study group
Brain
2019 Jan 1;142(1):80-92.
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Mukherjee SB
Indian J Pediatr
2017 Apr;84(4):307-314.
Epub 2017 Jan 19
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PMID: 28101829
Riley KN,
Catalano LM,
Bernat JA,
Adams SD,
Martin DM,
Lalani SR,
Patel A,
Burnside RD,
Innis JW,
Rudd MK
Am J Med Genet A
2015 Nov;167A(11):2664-73.
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Clinical prediction guides
Cuinat S,
Nizon M,
Isidor B,
Stegmann A,
van Jaarsveld RH,
van Gassen KL,
van der Smagt JJ,
Volker-Touw CML,
Holwerda SJB,
Terhal PA,
Schuhmann S,
Vasileiou G,
Khalifa M,
Nugud AA,
Yasaei H,
Ousager LB,
Brasch-Andersen C,
Deb W,
Besnard T,
Simon MEH,
Amsterdam KH,
Verbeek NE,
Matalon D,
Dykzeul N,
White S,
Spiteri E,
Devriendt K,
Boogaerts A,
Willemsen M,
Brunner HG,
Sinnema M,
De Vries BBA,
Gerkes EH,
Pfundt R,
Izumi K,
Krantz ID,
Xu ZL,
Murrell JR,
Valenzuela I,
Cusco I,
Rovira-Moreno E,
Yang Y,
Bizaoui V,
Patat O,
Faivre L,
Tran-Mau-Them F,
Vitobello A,
Denommé-Pichon AS,
Philippe C,
Bezieau S,
Cogné B
Genet Med
2022 Aug;24(8):1774-1780.
Epub 2022 May 14
doi: 10.1016/j.gim.2022.04.011.
PMID: 35567594
Strehlow V,
Heyne HO,
Vlaskamp DRM,
Marwick KFM,
Rudolf G,
de Bellescize J,
Biskup S,
Brilstra EH,
Brouwer OF,
Callenbach PMC,
Hentschel J,
Hirsch E,
Kind PC,
Mignot C,
Platzer K,
Rump P,
Skehel PA,
Wyllie DJA,
Hardingham GE,
van Ravenswaaij-Arts CMA,
Lesca G,
Lemke JR;
GRIN2A study group
Brain
2019 Jan 1;142(1):80-92.
doi: 10.1093/brain/awy304.
PMID: 30544257Free PMC Article
Mukherjee SB
Indian J Pediatr
2017 Apr;84(4):307-314.
Epub 2017 Jan 19
doi: 10.1007/s12098-016-2272-2.
PMID: 28101829
Riley KN,
Catalano LM,
Bernat JA,
Adams SD,
Martin DM,
Lalani SR,
Patel A,
Burnside RD,
Innis JW,
Rudd MK
Am J Med Genet A
2015 Nov;167A(11):2664-73.
Epub 2015 Jul 31
doi: 10.1002/ajmg.a.37269.
PMID: 26227573
Tenorio J,
Arias P,
Martínez-Glez V,
Santos F,
García-Miñaur S,
Nevado J,
Lapunzina P
Orphanet J Rare Dis
2014 Sep 20;9:138.
doi: 10.1186/s13023-014-0138-0.
PMID: 25238977Free PMC Article