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PHOX2B mutations among subgroups of patients with CCHS. The mutation types are reported on the X-axis. Alanine expansions are symbolized by a plus sign (+) followed by the number of extra alanines. MS = missense mutations; FS = frameshift mutations. The minus sign (−) represents the group of patients (n=14) with no PHOX2B mutation identified. Clinical subgroups are listed in the graph key.
