Renal hypodysplasia/aplasia 2
Renal aplasia 2 is a severe form of congenital anomalies of the kidney and urinary tract (CAKUT), caused by mutations of the FSF20 gene. The inheritance pattern is recessive.
|Malformations of the urinary tract|
Malformations in renal aplasia type 2 are life threatening.
|Renal hypodysplasia/aplasia 1|
|Renal hypodysplasia/aplasia 2|
Barak H et al. (2012) FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.[^]
Humbert C et al. (2014) Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.[^]
Joss S et al. (2003) De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia.[^]
OMIM.ORG articleOmim 615721 [^]