Cargando…
Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the AGT Gene
Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare and lethal disorder that causes stillbirth or early neonatal death. Most of the reported cases are diagnosed postnatally by a histopathological hallmark of the absence or paucity of differentiated proximal tubules in kidneys. Prenatal di...
Autores principales: | Ma, Gwo-Chin, Chen, Ying-Chung, Wu, Wan-Ju, Chang, Shun-Ping, Chang, Ting-Yu, Lin, Wen-Hsiang, Chen, Ming |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6963964/ https://www.ncbi.nlm.nih.gov/pubmed/31718018 http://dx.doi.org/10.3390/diagnostics9040185 |
Ejemplares similares
-
Effect of Hydrocortisone on Angiotensinogen (AGT) Mutation–Causing Autosomal Recessive Renal Tubular Dysgenesis
por: Tseng, Min-Hua, et al.
Publicado: (2021) -
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
por: Lin, Shin-Yu, et al.
Publicado: (2021) -
Survival over 2 years of autosomal-recessive renal tubular dysgenesis
por: Kim, Su Yeong, et al.
Publicado: (2012) -
Autosomal Recessive Renal Tubular Dysgenesis Caused by a Founder Mutation of Angiotensinogen
por: Tseng, Min-Hua, et al.
Publicado: (2020) -
Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature
por: Vincent, Krista M., et al.
Publicado: (2022)