Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 1.

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Fig. 1. The facial features of the patient. Note the presence of mild facial dysmorphism, including a hypertelorism and small lip, as is shared previous reported CCCTC-binding factor mutation cases.
Journal of Genetic Medicine 2023;20:70-4
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