指甲-髌骨综合征是一种罕见的常染色体显性遗传疾病,发病率只有1/50000。这种疾病主要是由于位于9号染色体的LXM1B基因突变引起,虽然大多数患者有明显家族史,但约12.5%的病例为散发无明显家族史,且10%~15%的患者未能检测到LXM1B基因突变。
Metabolic syndrome is a constellation of conditions that together increase the risk of type 2 diabetes, stroke, and cardiovascular problems, including heart attack. The features of metabolic syndrome ...
Nail dysplasia was noticed in all fingers and ... Knee examination revealed multiple surgical scars on both knees with a small patella in the left knee and absent patella on the right side.
A 40-year-old man suspected of having Guillain-Barre Syndrome (GBS) died in Solapur, Maharashtra. Over 100 cases of GBS have been reported in Pune. The syndrome, often triggered by bacterial and viral ...
What is Zollinger-Ellison syndrome? Zollinger-Ellison syndrome (ZES) is a rare digestive disorder. If you have ZES, you likely have 1 or more tumors in the first part of the small intestine, the ...