Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly)

Background and aims: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) represents a type of severe fetal skeletal dysplasia (SD) characterized by shortened limbs, narrow thorax with or without polydactyly, which is caused by the homozygous or compound heterozygous mutations in the D...

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Detalles Bibliográficos
Autores principales: Chen, Wenqi, Li, Yazhou, Zhang, Jing, Yuan, Yufan, Sun, Donglan, Yuan, Jiayu, Yang, Kai, Liang, Ying, Guo, Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10116042/
https://www.ncbi.nlm.nih.gov/pubmed/37091781
http://dx.doi.org/10.3389/fgene.2023.1125473

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10116042/
https://www.ncbi.nlm.nih.gov/pubmed/37091781
http://dx.doi.org/10.3389/fgene.2023.1125473

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