医学
远端肾小管酸中毒
分子遗传学
肾功能
肾
内科学
肾脏疾病
小学(天文学)
肾小管病变
遗传多样性
内分泌学
病理
生理学
突变
遗传异质性
代谢性酸中毒
功能(生物学)
肾病科
胃肠病学
酸中毒
生物信息学
病理生理学
肾小管酸中毒
多样性(政治)
原发性甲状旁腺功能亢进
遗传学
肾小管
作者
Sayali Thakare,Anurag Lila,Vaibhav Keskar,Thenral S. Geetha,Kruteesh Kumar BS,Nikhil Rao,Ashwini Joga,Prateek Shirke,Abhimanyu Singh Sardar,Rita Bothara,Prajakta Kadu,Geetanjali Thakur,Tulsi Modi,Sreyashi Bose,Divya Bajpai,Tejashree More,Prabhakar Kedar,B. T. Deshmukh,Nanda Pai,Pratap Jadhav
摘要
Primary dRTA in Asian Indians is a genetically diverse disease, and is characterised by delayed diagnosis, severe growth failure, bone deformities, and decreased kidney function in the long term. Findings from this study highlight the regional diversity and expand genotype-phenotype correlations in primary dRTA.
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