Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

BACKGROUND: Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that may be ameliorated by treatment. Approximately 50% of patients have loss of methylation of the imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 and 5%–10% have maternal un...

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Detalles Bibliográficos
Autores principales: Lokulo-Sodipe, Oluwakemi, Ballard, Lisa, Child, Jenny, Inskip, Hazel M, Byrne, Christopher D, Ishida, Miho, Moore, Gudrun E, Wakeling, Emma L, Fenwick, Angela, Mackay, Deborah J G, Davies, Justin Huw, Temple, I Karen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525777/
https://www.ncbi.nlm.nih.gov/pubmed/32054688
http://dx.doi.org/10.1136/jmedgenet-2019-106561

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525777/
https://www.ncbi.nlm.nih.gov/pubmed/32054688
http://dx.doi.org/10.1136/jmedgenet-2019-106561

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