Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype-Reference-Cited by-同舟云学术

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

Published:2022-01 Issue:1 Volume:109 Page:136-156
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Senum Sarah R.,Li Ying (Sabrina) M.,Benson Katherine A.,Joli Giancarlo,Olinger Eric,Lavu Sravanthi,Madsen Charles D.,Gregory Adriana V.,Neatu Ruxandra,Kline Timothy L.,Audrézet Marie-Pierre,Outeda Patricia,Nau Cherie B.,Meijer Esther,Ali Hamad,Steinman Theodore I.,Mrug Michal,Phelan Paul J.,Watnick Terry J.,Peters Dorien J.M.,Ong Albert C.M.,Conlon Peter J.,Perrone Ronald D.,Cornec-Le Gall Emilie,Hogan Marie C.,Torres Vicente E.,Sayer John A.,Harris Peter C.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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5. Presymptomatic Screening for Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease;Sanchis;Clin. J. Am. Soc. Nephrol.,2019

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