Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions (90%), encompassing multiple genes and including the retinoic acid...

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Detalles Bibliográficos
Autores principales: Rinaldi, Berardo, Villa, Roberta, Sironi, Alessandra, Garavelli, Livia, Finelli, Palma, Bedeschi, Maria Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872351/
https://www.ncbi.nlm.nih.gov/pubmed/35205380
http://dx.doi.org/10.3390/genes13020335

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872351/
https://www.ncbi.nlm.nih.gov/pubmed/35205380
http://dx.doi.org/10.3390/genes13020335

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