Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions.
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.
Deutsch K, et al. Among authors: eid la.
Genes Dis. 2023 Sep 15;11(5):101111. doi: 10.1016/j.gendis.2023.101111. eCollection 2024 Sep.
Genes Dis. 2023.
PMID: 38868576
Free PMC article.
No abstract available.