2024-12-20?-?骨髓發(fā)育不良、免疫缺陷、面部畸形、身材矮小和精神運動發(fā)育遲緩(Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay,簡稱MIFD綜合征)通常與特定的基因突變有關。這些...
2024-12-03?-?端粒相關肺纖維化和/或骨髓衰竭綜合征2型(Telomere-Related Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Type 2)通常與特定基因的突變有關,這些基因主要涉及端粒的維護和修復。常見的相關基因包...