Tuberous sclerosis complex [0.03%]
结节性硬化症综合征
Kellen Winden,E Martina Bebin,Shafali Jeste et al.
Kellen Winden et al.
Tuberous sclerosis complex (TSC) is a rare genetic disease caused by heterozygous loss-of-function variants in TSC1 or TSC2. Patients present with benign tumours known as hamartomas in the brain, eyes, lungs, kidneys, heart and skin. Many h...
Ovarian cancer [0.03%]
卵巢癌
Clare L Scott,Susana Banerjee,Florence Joly et al.
Clare L Scott et al.
Epithelial ovarian cancer (EOC) describes a group of diseases characterized by differing pathogeneses, molecular profiles, histologies and prognoses. The low incidence of each distinct histological type of EOC poses challenges for obtaining...
Liesl Zühlke,Andrea Beaton,Mark Engel et al.
Liesl Zühlke et al.
Acute rheumatic fever (ARF), the acute autoimmune sequela of group A Streptococcus infection, and its chronic life-threatening manifestation, rheumatic heart disease (RHD), which causes permanent heart valve damage, remain major drivers of ...
Bradley T Hammoor,Christopher S Lai,Grace X Xiong et al.
Bradley T Hammoor et al.
Intervertebral disc (IVD) degeneration is a naturally occurring process that is a consequence of biological ageing and exposure to normal physiological loading over a lifetime and is characterized by loss of IVD tissue structural integrity....
Joshua Burns,Vincent Timmerman,Matilde Laurá et al.
Joshua Burns et al.
Charcot-Marie-Tooth disease (CMT) subsumes many different inherited neuropathies. CMT and related neuropathies are among the most common inherited neurological disorders, affecting ~1 in 2,500 people globally and including both sexes. Mutat...
This PrimeView summarizes the clinical manifestations and diagnosis of Charcot-Marie-Tooth disease, and accompanies the Primer article by Burns and colleagues. ...