本文研究还揭示了不同研究机构的合作在帮助发现面临罕见疾病和残疾的家庭的答案方面的重要性，后期研究人员还将继续深入合作来找到引发人类其它罕见遗传性障碍的原因。综上，本文研究结果表明，GTF3C3突变或许会导致常染色体隐性形式的综合征智力障碍。（ 生物谷 ...

Cardiovascular problems are a major cause of morbidity and mortality in patients with autosomal-dominant polycystic kidney disease (ADPKD). Hypertension is a common early symptom of ADPKD ...

Sweet smelling urine lethargy and irritability may seem like signs of something benign and harmless but these symptoms in ...

An example of an autosomal recessive condition is cystic fibrosis. Cystic fibrosis close cystic fibrosisA disorder that mainly affects the lungs, pancreas, liver, and intestine. The main symptom ...

Autosomal dominant polycystic kidney disease (ADPKD) is a severe genetic disorder primarily caused by mutations in the PKD1 or PKD2 genes, which encode polycystins 1 and 2, affecting over 12 million ...

Sickle Cell disease is an autosomal recessive disorder that causes anemia, joint pain, a swollen spleen, and frequent, severe infections. It illustrates balanced polymorphism because carriers are ...

ADPKD, or autosomal dominant polycystic kidney disease, can cause severe pain, headaches, and more problems. What can you do to feel better and stay active? Find exercise and diet tips ...

The wife of a serving soldier in the army, Dipali Hatkar, has filed a Rs 7 crore lawsuit in a consumer court, alleging ...

Cystic fibrosis is a life-limiting autosomal recessive genetic disorder that primarily affects the lungs and digestive system ...