About
Contact & Profiles
A5028654513
Research Areas
- Electrolyte and hormonal disorders
- Metabolism and Genetic Disorders
- Gestational Diabetes Research and Management
- Ion Transport and Channel Regulation
- Birth, Development, and Health
- Obesity, Physical Activity, Diet
Asahikawa Medical University
2023-2025
ABSTRACT Loss‐of‐function mutations of AVPR2 and L1CAM result in nephrogenic diabetes insipidus (NDI) L1 syndrome. These diseases are inherited an X‐linked recessive manner. Females with heterozygous variants can be affected owing to skewed X‐chromosome inactivation (XCI). A 3‐year‐old girl normal development was presented polydipsia polyuria, diagnosed NDI through improper response water restriction desmopressin administration. targeted genome capture sequencing for X chromosome confirmed...
10.1002/ajmg.a.64024
article
EN
American Journal of Medical Genetics Part A
2025-02-24
10.1111/ped.15506
article
EN
Pediatrics International
2023-01-01
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