12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case re...
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
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Pisa: BioMed Central
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English
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Pisa: BioMed Central
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Background Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are protruding forehead in early life, body asymmetry (of upper and lower limbs) and substantial feeding difficulties. Although severa...
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12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
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TN_cdi_doaj_primary_oai_doaj_org_article_1edf30cb3cce437ba19efd36ba60433e
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1edf30cb3cce437ba19efd36ba60433e
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ISSN
1824-7288,1720-8424
E-ISSN
1824-7288
DOI
10.1186/s13052-020-00866-9
