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A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3
BACKGROUND: Renal hypodysplasia/aplasia-3 (RHDA3), as the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract, is mainly caused by mutations in GREB1L. However, the mutations in GREB1L identified to date only explain a limited proportion of RHDA3 cases, and the me...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9652819/ https://www.ncbi.nlm.nih.gov/pubmed/36371238 http://dx.doi.org/10.1186/s13023-022-02553-w |