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

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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Bibliographic Details
Main Authors: Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Marek Niedziela, Anna Sowińska-Seidler, Paweł Sztromwasser, Aleksander Jamsheer, Monika Obara-Moszyńska
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Pediatrics
Subjects:
MAP2K1
rasopathy
immunodeficiency
short stature
craniofacial dysmorphism
immunoglobulins
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.990111/full

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https://www.frontiersin.org/articles/10.3389/fped.2022.990111/full

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