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Beckwith-Wiedemann syndrome (exomphalos macroglossia gigantism syndrome)相关文献:
The Beckwith-Wiedemann syndrome in Nigerian infants (exomphalos, macroglossia and gigantism).
PMID:
The Beckwith-Wiedemann syndrome. The exomphalos-macroglossia-gigantism syndrome.
PMID:
Exomphalos-macroglossia-gigantism (visceromegaly) syndrome. (The Beckwith-Wiedemann syndrome).
PMID:
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER.
Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29.
PMID:29377879
Beckwith-Wiedemann syndrome.
Mishra D, Chakole V.
Pan Afr Med J. 2023 May 5;45:17. doi: 10.11604/pamj.2023.45.17.38741. eCollection 2023.
PMID:37426460
Beckwith-Wiedemann syndrome.
Weksberg R, Shuman C, Beckwith JB.
Eur J Hum Genet. 2010 Jan;18(1):8-14. doi: 10.1038/ejhg.2009.106.
PMID:19550435
Wiedemann-Beckwith syndrome.
Engström W, Lindham S, Schofield P.
Eur J Pediatr. 1988 Jun;147(5):450-7. doi: 10.1007/BF00441965.
PMID:3044795
Beckwith-Wiedemann Syndrome Revisited.
Soussi-Zander C.
Hum Mutat. 2015 Sep;36(9):iii. doi: 10.1002/humu.22662.
PMID:26270560
Adult experiences in Beckwith-Wiedemann syndrome.
Drust WA, Mussa A, Gazzin A, Lapunzina P, Tenorio-Castaño J, Nevado J, Pascual P, Arias P, Parra A, Getz KD, Kalish JM.
Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):116-127. doi: 10.1002/ajmg.c.32046. Epub 2023 May 10.
PMID:37163416
Beckwith-Wiedemann syndrome.
Weksberg R, Shuman C, Smith AC.
Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):12-23. doi: 10.1002/ajmg.c.30058.
PMID:16010676
Beckwith-Wiedemann syndrome in diverse populations.
Duffy KA, Sajorda BJ, Yu AC, Hathaway ER, Grand KL, Deardorff MA, Kalish JM.
Am J Med Genet A. 2019 Apr;179(4):525-533. doi: 10.1002/ajmg.a.61053. Epub 2019 Feb 4.
PMID:30719840
Beckwith-Wiedemann syndrome.
Elliott M, Maher ER.
J Med Genet. 1994 Jul;31(7):560-4. doi: 10.1136/jmg.31.7.560.
PMID:7966193
Ocular manifestations of Beckwith-Wiedemann syndrome.
Rohowetz LJ, Kalavar M, Al-Khersan H, Kiryakoza L, Patel NA, Yannuzzi NA, Capo H, Berrocal AM.
J AAPOS. 2021 Oct;25(5):303-305.e1. doi: 10.1016/j.jaapos.2021.04.012. Epub 2021 Sep 25.
PMID:34582951
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