A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement
一种与 CHILD 综合征相关的新型 NSDHL 变异,伴有胃肠道表现和局部皮肤受累。
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.1848
Tan, Ene-Choo; Chia, Shi Yun; Rafi'ee, Khadijah; Lee, Shan Xian; Kwek, Andrew Boon Eu; Tan, Sze Hwa; Ng, Victor Weng Leong; Wei, Heming; Koo, Stephanie; Koh, Ai Ling; Koh, Mark Jean-Aan