Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 delet...
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
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England: BioMed Central
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English
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Publisher
England: BioMed Central
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Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects,...
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Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
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TN_cdi_doaj_primary_oai_doaj_org_article_f4c0874902d042b1b136740229de5995
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f4c0874902d042b1b136740229de5995
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ISSN
1824-7288,1720-8424
E-ISSN
1824-7288
DOI
10.1186/s13052-022-01241-6
