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Genome Sequencing Identifies Biallelic Variants in SCLT1 in a Patient with Syndromic Nephronophthisis: Reflections on the SCLT1-related Ciliopathy Spectrum

E. Gillesse, A. Wade,J. S. Parboosingh, P. Y. B. Au,F. P. Bernier,R. E. Lamont,A. M. Innes

American Journal of Medical Genetics Part A（2024）

Cited 1|Views5
Key words
Bardet-Biedl,ciliopathy,genome sequencing,nephronophthisis,Senior-Loken,syndrome delineation
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