Unusual association of turner syndrome and hypopituitarism in a Tunisian family [0.03%]
突尼斯一家族Turner综合征与垂体功能减退症并存的一例报告
N Bougacha-Elleuch,M Elleuch,N Charfi et al.
N Bougacha-Elleuch et al.
Purpose of the study: Familial occurrence of either Turner syndrome or hypopituitarism is very rare. Particularly, their association is an uncommon finding. In this context, we describe for the first time 4 sisters with T...
Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene [0.03%]
Moroccan家族远端肾小管酸中毒伴耳聋的临床及分子研究:ATP6V1B1基因新突变报告
L Boualla,W Jdioui,K Soulami et al.
L Boualla et al.
Background: Primary distal renal tubular acidosis (dRTA) is a rare genetic condition characterized by an impaired acid excretion by the intercalated cells in the renal collecting duct. Recessive forms of this disease are ...
editors in chief
editors in chief
Advances in the relationship of immune checkpoint inhibitors and DNA damage repair [0.03%]
免疫检查点抑制剂与DNA损伤修复关系的研究进展
Cancer immunotherapy, alongside surgery, radiation therapy, and chemotherapy, has emerged as a key treatment modality. Immune checkpoint inhibitors (ICIs) represent a promising immunotherapy that plays a critical role in the management of v...