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Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

作者信息

Gos Monika, Fahiminiya Somayyeh, Poznański Jarosław, Klapecki Jakub, Obersztyn Ewa, Piotrowicz Małgorzata, Wierzba Jolanta, Posmyk Renata, Bal Jerzy, Majewski Jacek

机构信息

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

出版信息

Am J Med Genet A. 2014 Sep;164A(9):2310-6. doi: 10.1002/ajmg.a.36646. Epub 2014 Jun 17.

DOI:10.1002/ajmg.a.36646
PMID:24939608
Abstract
摘要

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Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.RIT1基因的突变会导致伴有幼年型粒单核细胞白血病可能性的努南综合征，但不参与急性淋巴细胞白血病的发生。
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Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.RIT1基因的突变导致努南综合征——更多功能证据及临床表型扩展
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Mol Genet Genomic Med. 2020 Jul;8(7):e1253. doi: 10.1002/mgg3.1253. Epub 2020 May 12.

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