Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene
X-Linked Alport Syndrome (XLAS) is an X-linked, dominant, hereditary nephropathy mainly caused by mutations in the COL4A5 gene, found on chromosome Xq22. In this study, we reported a pedigree with XLAS caused by a COL4A5 mutation. This family gave birth to a boy with XLAS who developed hematuria and...
Saved in:
Main Authors: | Nengqing Liu (Author), Xiaojun Wen (Author), Zhanhui Ou (Author), Xiaowu Fang (Author), Jing Du (Author), Xiufeng Lin (Author) |
---|---|
Format: | Book |
Published: |
Frontiers Media S.A.,
2023-08-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome
by: Xiaoling Hu, et al.
Published: (2021) -
The impact of low oocyte maturity ratio on blastocyst euploidy rate: a matched retrospective cohort study
by: Zhanhui Ou, et al.
Published: (2024) -
Effects of reduced follicle-stimulating hormone dosage before human chorionic gonadotropin trigger on in vitro fertilization outcomes
by: Zhanhui Ou, et al.
Published: (2023) -
Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome
by: Lei Liang, et al.
Published: (2023) -
A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome
by: Pei Qian, et al.
Published: (2023)