Article

Myeloproliferative disorder in a patient with RIT1 -associated Noonan syndrome: a case report and literature review

2023-09-19

Abstract excerpt

Myeloproliferative disorder (MPD) is a rare complication in individuals with Noonan syndrome (NS) and an RIT1 pathogenic variant; only three cases have previously been reported. However, this condition can be life-threatening. In the present case, a neonate with a massive capillary leak and compromised general condition caused by aggressive MPD, we employed cytoreductive chemotherapy using low-dose cytarabine, wh...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b8e04c54-8854-5409-b5e1-033fbf10f671
DOI: 10.22541/au.169513406.65053148/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Myeloproliferative disorder in a patient with RIT1 -associated Noonan syndrome: a case report and literature reviewDOI 10.22541/au.169513406.65053148/v1Read

Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review.Semantic proximity Read

Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature.Semantic proximity Read

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.Semantic proximity Read

Prenatal cases with rare RIT1 variants causing severe fetal hydrops and deathSemantic proximity Read

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

Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature.Semantic proximity Read

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.Semantic proximity Read

A neonate diagnosed with Noonan syndrome with myeloproliferative change.Semantic proximity Read

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.Semantic proximity Read

Further evidence of the importance of RIT1 in Noonan syndrome.Semantic proximity Read

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.Semantic proximity Read

MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts.Semantic proximity Read