Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the <i>AGT</i> 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...
Main Authors: | Gwo-Chin Ma, Ying-Chung Chen, Wan-Ju Wu, Shun-Ping Chang, Ting-Yu Chang, Wen-Hsiang Lin, Ming Chen |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2019-11-01
|
Series: | Diagnostics |
Subjects: | |
Online Access: | https://www.mdpi.com/2075-4418/9/4/185 |
Similar Items
-
Effect of Hydrocortisone on Angiotensinogen (<i>AGT</i>) Mutation–Causing Autosomal Recessive Renal Tubular Dysgenesis
by: Min-Hua Tseng, et al.
Published: (2021-04-01) -
Animal Models of Autosomal Recessive Parkinsonism
by: Guendalina Bastioli, et al.
Published: (2021-07-01) -
Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
by: Hae Rang Kim, et al.
Published: (2022-07-01) -
Compound Heterozygosity for <i>OTOA</i> Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family
by: Rocco Pio Ortore, et al.
Published: (2021-09-01) -
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis
by: Fatima Alabdulrazzaq, et al.
Published: (2023-12-01)