Associated Papers
Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.
Maity S et al.
Frontiers in Genetics, 2025
First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.
Song A et al.
Annals of Pediatric Endocrinology & Metabolism, 2023
Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.
Sumazin P et al.
Journal of Hepatology, 2022
35577029 (PubMed )
Supplement: mmc5.xlsx › Mutations
Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins.
Jin H et al.
Medicina (kaunas, Lithuania), 2022
Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion.
Cong Y et al.
Frontiers in Genetics, 2022
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome.
Sarret C et al.
Npj Genomic Medicine, 2019
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.
Tos T et al.
Genetic Counseling (geneva, Switzerland), 2015
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