Identification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia

BACKGROUND: OFD1 encodes a protein with 1012 amino acids, which is a component of basal bodies and centrioles, essential for cilia biogenesis. OFD1 was reported to be associated with X-chromosome linked dysmorphology syndrome in early studies and recent studies reported a few cases with primary cili...

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Detalles Bibliográficos
Autores principales: Yang, Binyi, Lei, Cheng, Yang, Danhui, Lu, Chenyang, Xu, Yingjie, Wang, Lin, Guo, Ting, Wang, Rongchun, Luo, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9285985/
https://www.ncbi.nlm.nih.gov/pubmed/35847568
http://dx.doi.org/10.2147/PGPM.S365740

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9285985/
https://www.ncbi.nlm.nih.gov/pubmed/35847568
http://dx.doi.org/10.2147/PGPM.S365740

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