机译:Hunter 综合征在染色体畸变患者中的不同临床结果,包括全部和部分 IDS 缺失:早期诊断和咨询对什么很重要?
Natl Inst TB & Lung Dis, Dept Genet & Clin Immunol, Warsaw, Poland;
Childrens Mem Hlth Inst, Dept Paediat Nutr & Metab Dis, Al Dzieci Polskich 20, PL-04730 Warsaw;
Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, PolandInst Mother & Child Hlth, Dept Med Genet, Warsaw, PolandChildrens Mem Hlth Inst, Anthropol Lab, Warsaw, Poland;
chromosomal deletion; hunter syndrome; IDS gene; IDS-2 pseudogene chromosomal aberrations; mucopolysaccharidosis type II;