A carregar...

Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

Ciliopathies constitute heterogeneous disorders that result from mutations in ciliary proteins. These proteins play an important role in the development of organs, physiology, and signaling pathways, and sequence variations in the genes encoding these proteins are associated with multisystem disorde...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Alfadhel, Majid, Umair, Muhammad, Almuzzaini, Bader, Asiri, Abdulaziz, Al Tuwaijri, Abeer, Alhamoudi, Khaloud, Alyafee, Yusra, Al-Owain, Mohammed
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8215951/
https://ncbi.nlm.nih.gov/pubmed/34177428
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000513829
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!