Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome

BACKGROUND: Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive neonatal progeroid disorder characterized by prenatal and postnatal growth retardation, short stature, a progeroid appearance, hypotonia, and mental impairment. CASE PRESENTATION: A 6-year-old patient, who initially pre...

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Detalles Bibliográficos
Autores principales: Wu, Shao-Wen, Li, Lin, Feng, Fan, Wang, Li, Kong, Yuan-Yuan, Liu, Xiao-Wei, Yin, Chenghong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8296688/
https://www.ncbi.nlm.nih.gov/pubmed/34289880
http://dx.doi.org/10.1186/s13052-021-01112-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8296688/
https://www.ncbi.nlm.nih.gov/pubmed/34289880
http://dx.doi.org/10.1186/s13052-021-01112-6

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