Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a rare disorder of unknown etiology. It has been proposed to be autosomal-recessive and is characterized by variable clinical features, such as intrauterine growth restriction and poor postnatal weight gain, charac...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Wambach, Jennifer A., Wegner, Daniel J., Patni, Nivedita, Kircher, Martin, Willing, Marcia C., Baldridge, Dustin, Xing, Chao, Agarwal, Anil K., Vergano, Samantha A. Schrier, Patel, Chirag, Grange, Dorothy K., Kenney, Amy, Najaf, Tasnim, Nickerson, Deborah A., Bamshad, Michael J., Cole, F. Sessions, Garg, Abhimanyu
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6288318/
https://ncbi.nlm.nih.gov/pubmed/30414627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.10.010
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