The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up
日本首例常染色体显性遗传性皮肤松弛症病例，该病伴有弹性蛋白基因第30外显子移码突变，并合并小气道疾病，随访8年。
期刊:BMC Pulmonary Medicine
影响因子:2.8
doi:10.1186/s12890-024-03290-5
Kaji, Masanori; Namkoong, Ho; Chubachi, Shotaro; Tanaka, Hiromu; Asakura, Takanori; Haraguchi Hashiguchi, Mizuha; Yamada, Mamiko; Uehara, Tomoko; Suzuki, Hisato; Tanabe, Naoya; Yamada, Yoshitake; Nozaki, Taiki; Ouchi, Takeshi; Tsuji, Atsutoshi; Kosaki, Kenjiro; Hasegawa, Naoki; Fukunaga, Koichi
