Jansen-de Vries综合征又称为“具有胃肠功能紊乱和高疼痛阈值的智力发育障碍”(Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold,IDDGIP)[(OMIM):617450],是一种由PPM1D基因突变导...Jansen-de Vries综合征又称为“具有胃肠功能紊乱和高疼痛阈值的智力发育障碍”(Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold,IDDGIP)[(OMIM):617450],是一种由PPM1D基因突变导致多系统受累的常染色体显性遗传(Autosomal dominant,AD)或常染色体隐性遗传(Autosomal recessive,AR)的罕见疾病.展开更多
文摘Jansen-de Vries综合征又称为“具有胃肠功能紊乱和高疼痛阈值的智力发育障碍”(Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold,IDDGIP)[(OMIM):617450],是一种由PPM1D基因突变导致多系统受累的常染色体显性遗传(Autosomal dominant,AD)或常染色体隐性遗传(Autosomal recessive,AR)的罕见疾病.
