PMC9614356_01
Phenotypical features of the patient with CFCS type 3 due to a novel pathogenic germline missense variant (NM_002755.3:[c.364A > G; p.Asn122Asp) in the MAP2K1 gene.
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F1
The patient's phenotypic features are displayed in Figure 1.
Timeline showing clinical case history including symptomatology, infectious history, diagnosis of CFCS, and therapy.
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F2
To follow the case history, see Figure 2 (Timeline).
PMC9614356_02