Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature.,Molecular Genetics & Genomic Medicine

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Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-05-12 , DOI: 10.1002/mgg3.1253
Safwat A Aly _{1,

2} , Kenneth M Boyer ₁ , Brie-Ann A Muller ₁ , Davide Marini ₂ , Carolyn H Jones ₁ , Hoang H Nguyen ₁

Affiliation

Noonan syndrome is an autosomal dominant disorder secondary to RASopathies, which are caused by germ‐line mutations in genes encoding components of the RAS mitogen‐activated protein kinase pathway. RIT1 (OMIM *609591) was recently reported as a disease gene for Noonan syndrome.

中文翻译：

RIT1相关性Noonan综合征的复杂性室性心律失常和血液系统骨髓增生性疾病：扩大表型并进行文献复习。

Noonan综合征是继RASopathies后的常染色体显性遗传疾病，它是由RAS促分裂原活化蛋白激酶途径的编码基因的种系突变引起的。RIT1（OMIM * 609591）最近被报道为Noonan综合征的疾病基因。

更新日期：2020-07-06

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