Cargando…
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation
Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history. Our case carried a de novo variant in causative gene, GATA3, but presenting no renal dysplasia or family history. The ph...
Autores principales: | Kishi, Haruka, Jojima, Teruo, Kogai, Takahiko, Iijima, Toshie, Ohira, Eriko, Tanuma, Dai, Konno, Sachiyo, Kato, Kanako, Kezuka, Atsumi, Akimoto, Kazumi, Sakumoto, Junko, Hishinuma, Akira, Tomaru, Takuya, Makita, Noriko, Usui, Isao, Aso, Yoshimasa |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752573/ https://www.ncbi.nlm.nih.gov/pubmed/33363791 http://dx.doi.org/10.1002/ccr3.3186 |
Ejemplares similares
-
The SGLT2 Inhibitor Canagliflozin Prevents Carcinogenesis in a Mouse Model of Diabetes and Non-Alcoholic Steatohepatitis-Related Hepatocarcinogenesis: Association with SGLT2 Expression in Hepatocellular Carcinoma
por: Jojima, Teruo, et al.
Publicado: (2019) -
No Negative Impact of a National State of Emergency by COVID-19 Outbreak on Hemoglobin A1c Levels in Patients With Type 2 Diabetes Living in Semi-Rural Japan
por: Aso, Yoshimasa, et al.
Publicado: (2021) -
Synergistic effects of liver fibrosis and sarcopenia on endothelial dysfunction and arterial stiffness in patients with type 2 diabetes
por: Jojima, Teruo, et al.
Publicado: (2022) -
Denosumab improves clinical manifestations of hypophosphatemic osteomalacia by adefovir-induced Fanconi syndrome: a case report
por: Kunii, Tomohisa, et al.
Publicado: (2019) -
Acute Exacerbation of Anemia with Parvovirus B19 Infection One Year after Sleeve Gastrectomy for Severe Obesity
por: Shinzawa, Toshimitsu, et al.
Publicado: (2022)