Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A m...
Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene
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Publisher
England: BioMed Central
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Language
English
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England: BioMed Central
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Contents
Overgrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which present a wide range of phenotypic variability, are often caused by mosaic somatic mutations in the genes associated with the PI3K/AKT/mTOR ce...
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Full title
Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene
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TN_cdi_doaj_primary_oai_doaj_org_article_4f146380722d489a87fce839142e9064
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4f146380722d489a87fce839142e9064
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ISSN
1824-7288
E-ISSN
1824-7288
DOI
10.1186/s13052-018-0568-8
