巴西研究人员使用外显子组测序来诊断患有重叠病症的小男孩的罕见疾病、单基因糖尿病和 T 细胞异常综合征，证明了其在诊断生长障碍方面的有效性。 Brazilian researchers used exome sequencing to diagnose rare disorders, monogenic diabetes and T-cell abnormalities syndrome, in a young boy with overlapping conditions, demonstrating its effectiveness in diagnosing growth disorders.
巴西研究人员最近进行的一项研究提出了一名小男孩的病例，该男孩出现了一系列症状和重叠的情况，导致诊断变得困难。 A recent study conducted by Brazilian researchers presented the case of a young boy with a series of symptoms and overlapping conditions, making diagnosis difficult. 通过使用外显子组测序分析基因组的蛋白质编码区域，研究人员发现了 GCK 和 BCL11B 的遗传改变，从而鉴定出罕见疾病 - 单基因糖尿病和 T 细胞异常综合征。 By using exome sequencing to analyze the protein-coding region of the genome, researchers discovered genetic alterations in GCK and BCL11B, which led to the identification of rare disorders - monogenic diabetes and T-cell abnormalities syndrome. 这一突破性的发现表明，基因测序可以有效诊断生长障碍，显着影响患者的治疗决策。 This groundbreaking discovery shows that genetic sequencing can be effective in diagnosing growth disorders, significantly impacting the patients' treatment decisions.