12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

Abstract 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 l...

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Bibliografiske detaljer

Principais autores:	Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2020-07-01
Serier:	Italian Journal of Pediatrics
Fag:	Silver-Russell syndrome Failure to thrive HMGA2 gene Netchine-Harbison clinical scoring system Case report
Online adgang:	http://link.springer.com/article/10.1186/s13052-020-00866-9
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