Annals of Pediatric Endocrinology & Metabolism

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First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review

Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin

Ann Pediatr Endocrinol Metab. 2023;28(1):67-72. Published online January 18, 2022
DOI: https://doi.org/10.6065/apem.2142134.067

First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review

Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin

Annals of Pediatric Endocrinology & Metabolism. 2023;28(1):67-72

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Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome

I Martínez-Garay, MJ Ballesta, S Oltra, C Orellana, A Palomeque, MD Moltó, F Prieto, F Martínez

Clinical Genetics. 2003;64(6):491-496

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Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

JP Delaunoy, A Dubos, P Marques Pereira, A Hanauer

Clinical Genetics. 2006;70(2):161-166

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The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing

Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang

Korean Journal of Pediatrics. 2018;61(12):403-406

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P345: Atypical presentations of Shwachman-Diamond syndrome diagnosed by whole exome sequencing and literature review

Hua Wang, Subhadra Ramanathan

Genetics in Medicine Open. 2023;1(1):100373

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Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin–Lowry syndrome

Anne Schneider, Saskia M. Maas, Raoul C.M. Hennekam, André Hanauer

European Journal of Medical Genetics. 2013;56(3):150-152

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Coffin-Lowry Syndrome

Anne L. Corcoran, Maria G. Valdovinos

Encyclopedia of Child Behavior and Development. 2011;376-379

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Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins

Huiying Jin, Haifeng Li, Shu Qiang

Medicina. 2022;58(7):958

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Whole Exome Sequencing Revealed a Novel Sequence Variant in The OTULIN Underlying Auto-Inflammatory Syndrome

Rubab Raza, Raul Jimenez-Heredia, Muhammad Zeeshan Anwar, Asmat Ullah, Ayisha Zia, Sajid Rashid, Wasim Ahmad, Ana Krolo, Kaan Boztug, Irfan Raza

. 2021;

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The First Korean Case of Gorlin–Goltz Syndrome Caused by a PTCH2 Pathogenic Variant Identified via Whole Exome Sequencing

Won Kyung Kwon, Hyoung Tae Kim, Young Cheol Yoon, Hye In Woo, Jong-Won Kim

Laboratory Medicine Online. 2020;10(2):175

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