模拟痉挛的 Alstr ö m 综合征 : 一种新的 ALMS1 变体的报告。
Mesh : Female Humans Child Nystagmus, Pathologic / diagnosis Alstrom Syndrome / diagnosis Spasms, Infantile / diagnosis Electroretinography Diagnosis, Differential Cell Cycle Proteins
来 源: DOI:10.1016/j.jaapos.2024.103853