PSAT1 gene variant causes mild serine deficiency: clinical and genetic analysis of ichthyosis combined with peripheral neuropathy
HUANG Haisheng, ZHAO Anqi, ZENG Qin, WANG Yumeng, HE Wei, LI Ming
Journal of Clinical Pediatrics . 2026, (5): 424 -430 .  DOI: 10.12372/jcp.2026.25e1598