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The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by AVPR2 Disruption Because of 4q25 Insertional Translocation
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참고문헌 (4)
- Bockenhauer D, "Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus", Nat Rev Nephrol, 11, pp.576~588 (2015)
- Knoers N, "GeneReviews" (1993), University of Washington
- Dufour W, "Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling", Genet Med, 24, pp.1708~1721 (2022)
- Lévy J, "LEF1 haploinsufficiency causes ectodermal dysplasia", Clin Genet, 97, pp.595~600 (2020)
관련 논문AI추천
Congenital Nephrogenic Diabetes Insipidus Presented with Bilateral Hydronephrosis: Genetic Analysis of V2R Gene Mutations강신욱, 김주성, 김형종, 류동렬, 송영수, 유태현, 이상철, 최훈영연세대학교의과대학 · Yonsei Medical Journal2006 · 제47권 제1호A Pediatric Case of AVPR2-related Nephrogenic Syndrome of Inappropriate Antidiuresis조민현, Eun Joo Lee, Hae Min Jang, Hee Sun Baek, Hyunwoo Bae대한소아신장학회 · Childhood Kidney Diseases2020 · 제24권 제2호Desmopressin responding female nephrogenic diabetes insipidus: a case reportHae Il Cheong, Jung Won Lee, Juyeon Lee, Ki Soo Pai대한소아신장학회 · Childhood Kidney Diseases2022 · 제26권 제2호A Case of Nephrogenic Diabetes Insipidus with a Rare X-linked Recessive Mutation in an Infant with Developmental and Growth Retardation Tracked by the Korean National Health Screening Program박지숙, 윤희상, 임재영, Eun Sil Park, Hyang-Ok Woo, Jae Young Cho, Ji-Hyun Seo, Min-Ji Kim대한소아신장학회 · Childhood Kidney Diseases2020 · 제24권 제2호Nonobstructive Bilateral Hydronephrosis & Hydroureter from Nephrogenic Diabetes Insipidus with a Novel Mutation of AQP2 Gene (p.A123G)남궁미경, Jeon Ihn Soo, Ki Sup Song대한소아신장학회 · Childhood Kidney Diseases2016 · 제20권 제2호형제에서 발생한 신성 요붕증의 AVPR2 유전자변이 증례보고김운곤, 이진석, 하태선대한소아신장학회 · Childhood Kidney Diseases2011 · 제15권 제2호
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