Clinical and Experimental Pediatrics

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Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement

Byungseung Moon, Minhye Kim, Hye Jin Kim, Jae So Cho, Hey Joon Son, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Soo Yeon Kim

Clin Exp Pediatr. 2023;66(3):142-144. Published online December 30, 2022
DOI: https://doi.org/10.3345/cep.2022.01144

Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement

Byungseung Moon, Minhye Kim, Hye Jin Kim, Jae So Cho, Hey Joon Son, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Soo Yeon Kim

Clinical and Experimental Pediatrics. 2023;66(3):142-144

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Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome

Sehime Gulsun Temel, Mahmut Cerkez Ergoren, Elena Manara, Stefano Paolacci, Gulten Tuncel, Seref Gul, Matteo Bertelli

European Journal of Human Genetics. 2020;28(12):1675-1680

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Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A

Purvi Majethia, Katta Mohan Girisha

American Journal of Medical Genetics Part A. 2021;185(5):1602-1605

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Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

Martina Minnerop, Delia Kurzwelly, Holger Wagner, Rebecca Schüle, Alfredo Ramirez

Brain. 2019;142(4):e13-e13

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POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann‐Rautenstrauch Syndrome: New findings show “compelling evidence” that POLR3A mutations underlie the etiology of autosomal‐recessive WRS

American Journal of Medical Genetics Part A. 2019;179(2):146-147

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Novel Biallelic Loss-of-Function Variants in CEP290 Cause Joubert Syndrome in Two Siblings

Xiang Wang, Zhu Zhang, Xueguang Zhang, Ying Shen, Hongqian Liu

. 2020;

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Neonatal progeriod syndrome associated with biallelic truncating variants inPOLR3A

Allison M. Jay, Robert L. Conway, Isabelle Thiffault, Carol Saunders, Emily Farrow, John Adams, Helga V. Toriello

American Journal of Medical Genetics Part A. 2016;170(12):3343-3346

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Corrigendum to: Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

Brain. 2021;144(11):e88-e88

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Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

Siri L Rydning, Jeanette Koht, Ying Sheng, Piotr Sowa, Hanne S Hjorthaug, Iselin M Wedding, Anne Kjersti Erichsen, Inger Anette Hovden, Paul H Backe, Chantal M E Tallaksen, Magnus D Vigeland, Kaja K Selmer

Brain. 2019;142(4):e12-e12

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POLR3A variants in striatal involvement without diffuse hypomyelination

Takuya Hiraide, Kazuo Kubota, Yu Kono, Seiji Watanabe, Tomoko Matsubayashi, Mitsuko Nakashima, Tadashi Kaname, Toshiyuki Fukao, Nobuyuki Shimozawa, Tsutomu Ogata, Hirotomo Saitsu

Brain and Development. 2020;42(4):363-368

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