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

• Main Authors: Aleksandra Szczawińska-Popłonyk (Author), Natalia Popłonyk (Author), Marek Niedziela (Author), Anna Sowińska-Seidler (Author), Paweł Sztromwasser (Author), Aleksander Jamsheer (Author), Monika Obara-Moszyńska (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...