Associated Papers
Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins.
Jin H et al.
Medicina (kaunas, Lithuania), 2022
[Analysis of RPS6KA3 gene mutation in a Chinese pedigree affected with Coffin-Lowry syndrome].
Shen N et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.
Senel S et al.
Genetic Counseling (geneva, Switzerland), 2011
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
Delaunoy JP et al.
Clinical Genetics, 2006
A female with Coffin-Lowry syndrome and "cataplexy".
Fryssira H et al.
Genetic Counseling (geneva, Switzerland), 2002
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