Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome-Reference-Cited by-同舟云学术

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

Published:2023-01-04 Issue:4 Volume:31 Page:479-484
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Piceci-Sparascio Francesca,Micale Lucia^ORCID,Torres Barbara,Guida Valentina,Consoli Federica,Torrente Isabella,Onori Annamaria,Frustaci Emanuela,D’Asdia Maria Cecilia,Petrizzelli Francesco^ORCID,Bernardini Laura^ORCID,Mancini Cecilia,Soli Fiorenza,Cocciadiferro Dario,Guadagnolo Daniele,Mastromoro Gioia,Putotto Carolina^ORCID,Fontana Franco,Brunetti-Pierri Nicola^ORCID,Novelli Antonio,Pizzuti Antonio,Marino Bruno,Digilio Maria Cristina,Mazza Tommaso,Dallapiccola Bruno,Ruiz-Perez Victor Luis,Tartaglia Marco^ORCID,Castori Marco,De Luca Alessandro^ORCID

Funder

Ministero della Salute

Sapienza Università di Roma

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01276-7.pdf

Reference16 articles.

1. Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, et al. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018;39:152–66.

2. Hammarsjo A, Pettersson M, Chitayat D, Handa A, Anderlid B-M, Bartocci M, et al. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. J Hum Genet. 2021;66:995–1008.