Coffin-Lowry syndrome: two novel variants in RPS6KA3 gene

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.

Authors

Derya Karaer (ORCID: https://orcid.org/0000-0002-1874-0109)
Taner Durak (ORCID: https://orcid.org/0000-0001-6143-1670)
Kadri Karaer (ORCID: https://orcid.org/0000-0003-1415-9103)

Institutions

Pamukkale University (TR)

Publication Details

Journal: Çukurova medical journal (Online)/Çukurova medical journal
Published: 2024-12-26
DOI: https://doi.org/10.17826/cumj.1431851
Primary Topic: Genetics and Neurodevelopmental Disorders
Type: article
Field-Weighted Citation Impact: 0.00

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article

Coffin-Lowry syndrome: two novel variants in RPS6KA3 gene

Derya Karaer, Taner Durak, Kadri Karaer

Dec 26, 2024

Çukurova medical journal (Online)/Çukurova medical journal

Genetics and Neurodevelopmental Disorders

article

Coffin-Lowry syndrome: two novel variants in RPS6KA3 gene

Derya Karaer, Taner Durak, Kadri Karaer

December 26, 2024article en

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.

Çukurova medical journal (Online)/Çukurova medical journalVol. 49(4)

Pamukkale University (TR)

Openalex Percentile: Top 73%

Genetics and Neurodevelopmental Disorders

DOI Open Access PDF OpenAlex

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Coffin-Lowry syndrome: two novel variants in RPS6KA3 gene — Derya Karaer, Taner Durak, et al. · Çukurova medical journal (Online)/Çukurova medical journal (2024) | TGRS Research Map | TGRS