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

Background and objectives: Coffin-Lowry Syndrome (CLS), a rare neurodegenerative disorder, is mainly diagnosed based on clinical manifestations and molecular analyses. In total, about 20 cases of CLS have been reported in China. Here, we report two cases of CLS in identical twin brothers and examine...

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Bibliographic Details
Main Authors: Huiying Jin, Haifeng Li, Shu Qiang
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Medicina
Subjects:
Online Access:https://www.mdpi.com/1648-9144/58/7/958