Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights
由复合杂合CHRNG变异引起的非翼状胬肉埃斯科巴综合征：基因型-表型关系研究进展
期刊:Human Genome Variation
影响因子:1.3
doi:10.1038/s41439-026-00340-8
Kido, Jun; Ueno, Hiroe; Misumi, Yohei; Sugawara, Keishin; Saito, Suzuran; Koshimizu, Eriko; Matsumoto, Naomichi; Ueda, Mitsuharu; Nakamura, Kimitoshi
