Clinical phenotype of cardiospondylocarpofacial syndrome
Of the fourteen patients with the CSCF phenotype, twelve carriedde novo variants in MAP3K7 , one female inherited the variant from her father and one female did not inherit the variant from her mother, but father was unavailable for testing. The clinical phenotype and patient characteristics are presented in detail inTable 1 . Two adult CSCF patients were included. Figure 2 shows photographs of the patients with CSCF who consented for publication.