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	<title>RASopathies &#8211; BIOENGINEER.ORG</title>
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		<title>Mosaic RASopathies: how postzygotic mutations rewrite diagnosis and prognosis</title>
		<link>https://bioengineer.org/mosaic-rasopathies-how-postzygotic-mutations-rewrite-diagnosis-and-prognosis/</link>
		
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		<pubDate>Sat, 17 Oct 2026 17:44:12 +0000</pubDate>
				<category><![CDATA[Biology]]></category>
		<category><![CDATA[epidermal nevus syndrome]]></category>
		<category><![CDATA[genotype-phenotype correlation]]></category>
		<category><![CDATA[HRAS]]></category>
		<category><![CDATA[hypophosphatemic rickets]]></category>
		<category><![CDATA[KRAS]]></category>
		<category><![CDATA[MOSAIC]]></category>
		<category><![CDATA[mosaic RASopathies]]></category>
		<category><![CDATA[next-generation sequencing]]></category>
		<category><![CDATA[phacomatosis pigmentokeratotica]]></category>
		<category><![CDATA[RASopathies]]></category>
		<category><![CDATA[rhabdomyosarcoma]]></category>
		<category><![CDATA[Schimmelpenning–Feuerstein–Mims syndrome]]></category>
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					<description><![CDATA[A comprehensive genetic and clinicopathological analysis of 18 patients with mosaic RASopathies reveals that postzygotic mutations in HRAS, KRAS, BRAF, PIK3CA, and FGFR2 produce distinct clinical patterns, with KRAS variants linked to ophthalmological, neurological, cardiovascular, and renal disorders and HRAS variants associated with hypophosphatemic rickets and malignancies, underscoring the essential role of tissue-based genetic testing for accurate diagnosis and management.]]></description>
		
		
		
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