A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children
Alport syndrome is a heterogeneous genetic disease involving the basement membrane of the glomeruli, inner ear, retina, and lens capsule. It typically manifests as progressive glomerulopathy that frequently results in end-stage renal disease, high-tone sensorineural deafness, and ocular abnormalitie...
Guardado en:
Autores principales: | Emmanuel Oduware, Nosakhare Joyce Iduoriyekemwen, Michael Ibadin, Henry Aikhionbare |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Karger Publishers
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/82dd3681c5114ec091d337bb0b1f3fa9 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series
por: Jing Wu, et al.
Publicado: (2021) -
A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease
por: Sienes Bailo Paula, et al.
Publicado: (2021) -
Clinical Features and Familial Mutations in an Autosomal-Inherited Alport Syndrome Patient With the Presentation of Nephrotic Syndrome
por: Dahai Wang, et al.
Publicado: (2021) -
Nueva variante en el gen COL4A3: etiología de un síndrome de Alport tipo 2 en varón de 38 años con sospecha de nefritis hereditaria
por: Sienes Bailo Paula, et al.
Publicado: (2021) -
The Implication of Dropping Race from the MDRD Equation to Estimate GFR in an African American-Only Cohort
por: Ernie Yap, et al.
Publicado: (2021)