What are the symptoms associated with RAPAdilino syndrome? what is rapadilino syndrome, what mutation causes this syndrome?
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RAPAdilino syndrome is a rare disorder characterized by the presence of features from both Rothmund-Thomson syndrome (RTS) and poikiloderma with neutropenia (PN). Symptoms of RAPAdilino syndrome include poikiloderma, radial ray defects, and immune deficiencies. It is caused by mutations in the RECQL4 gene, which is also associated with RTS. RECQL4 mutations lead to defective DNA helicase activity, affecting DNA repair mechanisms and contributing to the clinical manifestations of RAPAdilino syndrome. This syndrome represents a unique overlap of symptoms from RTS and PN, highlighting the complexity of genetic disorders and their varied clinical presentations .
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| Papers (5) | Insight |
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2 Citations | RAPAdilino syndrome is not addressed in the paper. The paper discusses De Sanctis-Cacchione syndrome, associated with skin and eye symptoms of xeroderma pigmentosum, neurological abnormalities, and mutations in specific genes. |
14 Citations | Not addressed in the paper. |
| Not addressed in the paper. | |
| RAPAdilino syndrome is not addressed in the provided paper. The mutation associated with Vici syndrome is a novel EPG5 mutation, causing symptoms like agenesis of the corpus callosum and developmental delay. | |
5 Citations | Not addressed in the paper. |
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