Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gen...
Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene
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London: BioMed Central
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English
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London: BioMed Central
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BACKGROUNDNoonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases. Subjects carrying a pathogenetic varia...
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Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene
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TN_cdi_doaj_primary_oai_doaj_org_article_1123334782094f0f92fb59aba56dd920
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1123334782094f0f92fb59aba56dd920
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ISSN
1824-7288
E-ISSN
1824-7288
DOI
10.1186/s13052-022-01340-4
