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

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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Bibliographic Details
Main Authors: Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Italian Journal of Pediatrics
Subjects:
Silver-Russell syndrome
Failure to thrive
HMGA2 gene
Netchine-Harbison clinical scoring system
Case report
Online Access:http://link.springer.com/article/10.1186/s13052-020-00866-9

Internet

http://link.springer.com/article/10.1186/s13052-020-00866-9

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