The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...

然而，在大脑发育过程中，DNA 损伤修复机制一旦出现缺陷，就会引发严重的神经系统疾病，微头畸形（Microcephaly）便是其中之一。 原发性遗传性微头畸形（MCPH）大多由单基因隐性突变引起，至今已发现 30 个相关基因。Citron 激酶（CITK）基因就是其中之一 ...

Angelman syndrome is a rare genetic disorder that mainly affects the nervous system and causes developmental delays, speech difficulties, and movement problems. The condition has recently gained ...