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Noonan syndrome相关文献:
Noonan syndrome.
Roberts AE, Allanson JE, Tartaglia M, Gelb BD.
Lancet. 2013 Jan 26;381(9863):333-42. doi: 10.1016/S0140-6736(12)61023-X. Epub 2013 Jan 10.
PMID:23312968
Noonan syndrome: clinical features, diagnosis, and management guidelines.
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA.
Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27.
PMID:20876176
Noonan syndrome: improving recognition and diagnosis.
Zenker M, Edouard T, Blair JC, Cappa M.
Arch Dis Child. 2022 Dec;107(12):1073-1078. doi: 10.1136/archdischild-2021-322858. Epub 2022 Mar 4.
PMID:35246453
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD.
Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):73-80. doi: 10.1002/ajmg.c.31765. Epub 2020 Feb 5.
PMID:32022400
Noonan syndrome.
Turner AM.
J Paediatr Child Health. 2014 Oct;50(10):E14-20. doi: 10.1111/j.1440-1754.2010.01970.x. Epub 2011 Jul 19.
PMID:21771153
[Noonan syndrome: genetic and clinical update and treatment options].
Carcavilla A, Suárez-Ortega L, Rodríguez Sánchez A, Gonzalez-Casado I, Ramón-Krauel M, Labarta JI, Quinteiro Gonzalez S, Riaño Galán I, Ezquieta Zubicaray B, López-Siguero JP.
An Pediatr (Engl Ed). 2020 Jul;93(1):61.e1-61.e14. doi: 10.1016/j.anpedi.2020.04.008. Epub 2020 May 31.
PMID:32493603
Noonan syndrome.
Allanson JE.
Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):274-9. doi: 10.1002/ajmg.c.30138.
PMID:17639592
Noonan syndrome.
Allanson JE.
J Med Genet. 1987 Jan;24(1):9-13. doi: 10.1136/jmg.24.1.9.
PMID:3543368
Noonan syndrome.
van der Burgt I.
Orphanet J Rare Dis. 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4.
PMID:17222357
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM, Thain E, Barnett-Tapia C, Sadeghian H, Kim RH.
BMC Med Genomics. 2022 Jul 15;15(1):160. doi: 10.1186/s12920-022-01304-x.
PMID:35840934
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