Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature

Cardio-facio-cutaneous syndrome (CFCS) belongs to the group of RASopathies, clinical disorders defined by disruptions in the RAS/MAPK signaling pathway. It is caused by heterozygous gain-of-function germline mutations in genes encoding protein kinases: BRAF, MAP2K1 (MEK1), MAP2K2 (MEK2), and in the...

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Detalles Bibliográficos
Autores principales: Szczawińska-Popłonyk, Aleksandra, Popłonyk, Natalia, Niedziela, Marek, Sowińska-Seidler, Anna, Sztromwasser, Paweł, Jamsheer, Aleksander, Obara-Moszyńska, Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9614356/
https://www.ncbi.nlm.nih.gov/pubmed/36313893
http://dx.doi.org/10.3389/fped.2022.990111

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9614356/
https://www.ncbi.nlm.nih.gov/pubmed/36313893
http://dx.doi.org/10.3389/fped.2022.990111

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