The GREB1L gene encodes a protein which is probably involved in retinoid signaling pathway. Mutations cause dominant renal agenesis and hypodysplasia (RHD).
Sanna-Cherchi S et al. (2017) Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
De Tomasi L et al. (2017) Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Orphanet ID 470408 [^]
NCBI 80000 [^]
Wikipedia EN (GREB1L) [^]
Update: April 29, 2019