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cardiofaciocutaneous syndrome相关文献:
Cardiofaciocutaneous Syndrome.
Rauen KA.
2007 Jan 18 [updated 2023 Feb 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301365
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Scorrano G, David E, Calì E, Chimenz R, La Bella S, Di Ludovico A, Di Rosa G, Gitto E, Mankad K, Nardello R, Mangano GD, Leoni C, Ceravolo G.
Genes (Basel). 2023 Nov 22;14(12):2111. doi: 10.3390/genes14122111.
PMID:38136934
The cardiofaciocutaneous syndrome.
Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G.
J Med Genet. 2006 Nov;43(11):833-42. doi: 10.1136/jmg.2006.042796. Epub 2006 Jul 6.
PMID:16825433
The RASopathies: from pathogenetics to therapeutics.
Hebron KE, Hernandez ER, Yohe ME.
Dis Model Mech. 2022 Feb 1;15(2):dmm049107. doi: 10.1242/dmm.049107. Epub 2022 Feb 18.
PMID:35178568
Clinical overview on RASopathies.
Zenker M.
Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):414-424. doi: 10.1002/ajmg.c.32015. Epub 2022 Nov 25.
PMID:36428239
Noonan syndrome and clinically related disorders.
Tartaglia M, Gelb BD, Zenker M.
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002.
PMID:21396583
[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
Cardiofaciocutaneous syndrome.
Mathews CA, George P, Hood AF.
Arch Dermatol. 1993 Jan;129(1):46-7. doi: 10.1001/archderm.1993.01680220058015.
PMID:8420490
Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature.
Jurcă MC, Iuhas OA, Puiu M, Chiriţă-Emandi A, Andreescu NI, Petcheşi CD, Jurcă AD, Magyar I, Jurcă SI, Kozma K, Severin EM, Bembea M.
Rom J Morphol Embryol. 2021 Apr-Jun;62(2):563-568. doi: 10.47162/RJME.62.2.23.
PMID:35024745
Cardiofaciocutaneous syndrome.
Thergaonkar RW, Bhat V.
Med J Armed Forces India. 2013 Apr;69(2):175-7. doi: 10.1016/j.mjafi.2012.08.001. Epub 2012 Oct 23.
PMID:24600094
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