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

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) an...

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Detalles Bibliográficos
Autores principales: Mercadante, Francesca, Busè, Martina, Salzano, Emanuela, Fragapane, Tiziana, Palazzo, Daniela, Malacarne, Michela, Piccione, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7389890/
https://www.ncbi.nlm.nih.gov/pubmed/32723361
http://dx.doi.org/10.1186/s13052-020-00866-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7389890/
https://www.ncbi.nlm.nih.gov/pubmed/32723361
http://dx.doi.org/10.1186/s13052-020-00866-9

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