Fig. 4

Genetic test results. This gene was detected by the NGS laboratory of Shanghai Institute of Endocrine and Metabolic Diseases (Department of Endocrinology and Metabolism, Ruijin Hospital, Shanghai Jiaotong University). a: Subject: There is a c.363_373delGCCAGTGCGCC variant in exon 16 of the ARMC5 gene, namely, p.Pro122Alafs*61 b: Subject's first-degree relatives (daughter): The mutation was not detected