Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene

BACKGROUND: HNF1B deletion/intragenic mutations are the most commonly identified genetic cause of congenital anomalies of the kidney and urinary tract (CAKUT) suggested by fetal ultrasound findings such as: parenchymal hyperechogenicity, overt cystic changes or gross morphological urinary system (UT...

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Detalles Bibliográficos
Autores principales: Cleper, Roxana, Reches, Adi, Shapira, Dana, Simchoni, Sharon, Reisman, Lewis, Ben-Sira, Liat, Yaron, Yuval, Wolman, Igal, Malinger, Gustavo, Brabbing-Goldstein, Dana, Ben-Shachar, Shay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753471/
https://www.ncbi.nlm.nih.gov/pubmed/35070826
http://dx.doi.org/10.21037/tp-21-386

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753471/
https://www.ncbi.nlm.nih.gov/pubmed/35070826
http://dx.doi.org/10.21037/tp-21-386

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