李秀蓉

工作机构：中信湘雅生殖与遗传专科医院

专业：遗传咨询医生

7q11.23 Duplication Syndrome	7q11.23重复综合征	NBKID:
Aicardi-Goutières Syndrome	Aicardi-Goutières Syndrome	NBKID:
Alexander Disease	亚历山大病 /Alexander Disease	NBKID:
Dystrophinopathies	抗肌萎缩蛋白病（dystrophinopathies）	NBKID:
Hand-Foot-Genital Syndrome	Hand-Foot-Genital Syndrome	NBKID:
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis	遗传性纤维化硬皮病伴肌腱挛缩，肌病和肺纤维化/Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis	NBKID:
Nephronophthisis	肾单位肾痨/Nephronophthisis	NBKID:
POLG-Related Disorders	POLG-Related Disorders	NBKID:
PURA-Related Neurodevelopmental Disorders	PURA-Related Neurodevelopmental Disorders	NBKID:
X-Linked Severe Combined Immunodeficiency	X连锁重症联合免疫缺陷病	NBKID:
Bohring-Opitz Syndrome	Bohring-Opitz Syndrome/ Bohring-Opitz综合征	NBKID:
GRIN2B-Related Neurodevelopmental Disorder	GRIN2B-Related Neurodevelopmental Disorder/GRIN2B相关的神经发育障碍	NBKID:

中文版GeneReviews