Back to Search Start Over

Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions.

Authors :
Deutsch K
Klämbt V
Kitzler TM
Jobst-Schwan T
Schneider R
Buerger F
Seltzsam S
El Desoky S
Kari JA
Hafeez F
Szczepańska M
Eid LA
Awad HS
Al-Saffar M
Soliman NA
Tasic V
Nicolas-Frank C
Yousef K
Schierbaum LM
Schneider S
Halawi A
Elmubarak I
Lemberg K
Shril S
Mane SM
Rodig N
Hildebrandt F
Source :
Genes & diseases [Genes Dis] 2023 Sep 15; Vol. 11 (5), pp. 101111. Date of Electronic Publication: 2023 Sep 15 (Print Publication: 2024).
Publication Year :
2023

Details

Language :
English
ISSN :
2352-3042
Volume :
11
Issue :
5
Database :
MEDLINE
Journal :
Genes & diseases
Publication Type :
Academic Journal
Accession number :
38868576
Full Text :
https://doi.org/10.1016/j.gendis.2023.101111