Coffin-Lowry sendromu: RPS6KA3 geninde iki yeni varyant

Year 2024, Volume: 49 Issue: 4, 1111 - 1113, 30.12.2024

Derya Karaer , Taner Durak , Kadri Karaer

https://doi.org/10.17826/cumj.1431851

Abstract

CLS'li iki Türk erkek çocukta RPS6KA3'ün iki yeni mutasyonunu sunuyoruz. Önceki yayınlarda bildirildiği gibi, olgularımızda büyüme ve gelişme geriliği ve fenotipik görünüm tipikti.

Keywords

Coffin-Lowry sendromu, RPS6KA3 geni, varyant

Coffin-Lowry syndrome: two novel variants in RPS6KA3 gene

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 syndrome, novel variant, RPS6KA3 gene

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