A rare occurrence of a hereditary Birt-Hogg-Dubé syndrome: A case report

Figure 9 Seven of the patient’s family members were genetically analysed. Seven of the patient’s family members were genetically analysed (I-1 was deceased), and the germline mutations in the folliculin gene mutation of the patients’ were derived from her mother. The source of her mother’s gene mutation could not be tracked due to the failure of the gene test in I-1. The patient, her mother, and her second maternal aunt had a similar genetic mutation, and the performance of their clinically affected organs was identical.