期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 56, 期 6, 页码 336-339出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2013.03.006
关键词
Autosomal recessive cutis laxa type 2; Wrinkly skin syndrome; Gerodermia osteodysplastica; ATP6V0A2; GORAB; PYCR1