Neonatal progeriod syndrome associated with biallelic truncating variants inPOLR3A-Reference-Cited by-同舟云学术

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Neonatal progeriod syndrome associated with biallelic truncating variants inPOLR3A

Published:2016-09-09 Issue:12 Volume:170 Page:3343-3346
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Jay Allison M.¹,Conway Robert L.²,Thiffault Isabelle³,Saunders Carol³,Farrow Emily³,Adams John¹,Toriello Helga V.⁴

Affiliation:

1. Department of Cancer Genetics; St. John Hospital; Grosse Pointe Michigan

2. Children's Hospital of Michigan; Detroit Michigan

3. Center for Pediatric Genomic Medicine; Children's Mercy Hospital; Kansas City Missouri

4. Spectrum Health Hospitals; Grand Rapids Michigan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37960/fullpdf

Reference17 articles.

1. Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): Report of three affected sibs;Arboleda;Am J Med Genet Part A,2011

2. Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient “G;Arboleda;Birth Defects Res A Clin Mol Teratol,2005

3. Wiedemann-Rautenstrauch syndrome prenatal diagnosis;Becerra;J Perinatol,2014

4. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy;Bernard;Am J Hum Genet,2011

5. Two sibs with Wiedemann-Rautenstrauch syndrome: Possibilities of prenatal diagnosis by ultrasound;Castineyra;J Med Genet,1992

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3. APOLR3B-variant reveals a Pol III transcriptome response dependent on La protein/SSB;2024-02-05

4. The Genetic Basis of the First Patient with Wiedemann–Rautenstrauch Syndrome in the Russian Federation;Genes;2024-01-29

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