A Novel ABCA12 Pathologic Variant Identified in an Ecuadorian Harlequin Ichthyosis Patient: A Step Forward in Genotype‐phenotype Correlations
Molecular genetics & genomic medicine（2019）
关键词
ABCA12 gene,Autosomal recessive congenital ichthyoses (ARCI),congenital ichthyosiform erythroderma (CIE),harlequin ichthyosis (HI),lamellar ichthyosis (LI),splice-site pathogenic variant
AI 理解论文
溯源树
样例
生成溯源树，研究论文发展脉络
Chat Paper
正在生成论文摘要