ArticleAmerican journal of medical genetics. Part A2022
Third reported patient with RAP1B-related syndromic thrombocytopenia and novel clinical findings.
Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Mechanism of microRNA-30b-5p enhancing the response of MDA-MB-231 cells to cisplatin by regulating RAP1B expression.Experimental and therapeutic medicine · 2026Article
- Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency.The Journal of clinical investigation · 2024Article
- Third reported patient with RAP1B-related syndromic thrombocytopenia and novel clinical findings.American journal of medical genetics. Part A · 2022Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
RAP1B is a RAS-superfamily small GTP-binding protein involved in numerous cell processes. Pathogenic gain-of-function variants in this gene have been associated with RAP1B-related syndromic thrombocytopenia, an ultrarare disorder characterized by hematologic abnormalities, neurodevelopmental delays, growth delay, and congenital birth defects including cardiovascular, genitourinary, neurologic, and skeletal systems. We report a 23-year-old male with a novel, de novo RAP1B gain-of-function variant identified on genome sequencing. This is the third reported case which expands the molecular and phenotypic spectrum of RAP1B-related syndromic thrombocytopenia.
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