Síndrome de Bardet Biedl: rara causa de enfermedad renal terminal

Bardet Biedl syndrome (SBB) is a rare genetic disorder; its prevalence in North America and Europe is estimated at 1: 140,000 to 1: 160,000 newborns. It is included in the group of ciliopathies as it results from at least 16 different gene mutations suspected of playing a fundamental role in the cil...

• Autore principale: Quinchuela Hidalgo, Jorge Oswaldo (author)
• Altri autori: Nájera, Mercedes (author), Calispa, Franklin (author), Alcocer, Oswaldo (author), Chonata, Jorge (author)
• Natura: article
• Lingua: spa
• Pubblicazione: 2016
• Soggetti: síndrome de Bardet Biedl; ciliopatías; enfermedad renal crónica; hemodiálisis; Bardet Biedl syndrome; ciliopathies; chronic kidney disease; hemodialysis
• Accesso online: https://revistadigital.uce.edu.ec/index.php/CIENCIAS_MEDICAS/article/view/2853