Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene

BACKGROUND: Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestation...

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Detalles Bibliográficos
Autores principales: Serra, Gregorio, Felice, Sofia, Antona, Vincenzo, Di Pace, Maria Rita, Giuffrè, Mario, Piro, Ettore, Corsello, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069788/
https://www.ncbi.nlm.nih.gov/pubmed/35509048
http://dx.doi.org/10.1186/s13052-022-01241-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069788/
https://www.ncbi.nlm.nih.gov/pubmed/35509048
http://dx.doi.org/10.1186/s13052-022-01241-6

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