Coffin-Lowry syndrome: two novel variants in RPS6KA3 gene

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Cukurova Medical Journal
Cilt: 49 Sayı: 4
Coffin-Lowry syndrome: two novel variants in RPS6KA3 gene

Coffin-Lowry syndrome: two novel variants in RPS6KA3 gene

Authors : Derya Karaer, Taner Durak, Kadri Karaer

Pages : 1111-1113

Doi:10.17826/cumj.1431851

View : 91 | Download : 283

Publication Date : 2024-12-30

Article Type : Other Papers

Abstract :We present two novel mutations of RPS6KA3 in two Turkish boys with CLS. As reported in previous publications, growth and developmental delay and phenotypic appearance were typical in our cases.
Keywords : Coffin-Lowry sendromu, RPS6KA3 geni, varyant

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