Cargando…
A Case of New Familiar Genetic Variant of Autosomal Dominant Polycystic Kidney Disease-2: A Case Study
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by renal cyst formation due to mutations in genes coding for polycystin-1 [PKD1 (85–90% of cases), on ch 16p13.3] and polycystin-2 [PKD2 (10–15% of cases), on ch 4q13-23] and PKD3 gene (gene unmapped). It is also assoc...
Autores principales: | Litvinchuk, Tetiana, Tao, Yunxia, Singh, Ruchi, Vasylyeva, Tetyana L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4598801/ https://www.ncbi.nlm.nih.gov/pubmed/26501044 http://dx.doi.org/10.3389/fped.2015.00082 |
Ejemplares similares
-
Clinical Trials in Pediatric Autosomal Dominant Polycystic Kidney Disease
por: Cadnapaphornchai, Melissa A.
Publicado: (2017) -
The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease—A Primer for Clinicians
por: Cordido, Adrián, et al.
Publicado: (2017) -
Is Autosomal Dominant Polycystic Kidney Disease Becoming a Pediatric Disorder?
por: De Rechter, Stéphanie, et al.
Publicado: (2017) -
Predicting autosomal dominant polycystic kidney disease progression: review of promising Serum and urine biomarkers
por: Sorić Hosman, Iva, et al.
Publicado: (2023) -
GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease
por: Waldrop, Elizabeth, et al.
Publicado: (2019)