ReviewEuropean journal of human genetics : EJHG2010
Coffin-Lowry syndrome.
Review in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
59 citing papers in PubMed, 134 citations in OpenAlex.
- Article
- [Coffin-Lowry syndrome: Case report in Mexico].Revista medica del Instituto Mexicano del Seguro Social · 2026Article
- Challenges in Diagnosis and Management of Coffin-Lowry Syndrome-Single-Center Experience.Diagnostics (Basel, Switzerland) · 2026Article
- [Case Report of One Family With Coffin-Lowry Syndrome and Literature Review of 28 Cases in China].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2025Review
- Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.American journal of human genetics · 2025Article
- Cardiovascular Collapse During Scoliosis Surgery in a Patient With Coffin-Lowry Syndrome and Mesocardia.Cureus · 2025Article
- Sex differences in HIV-1 reservoir cell selection are linked to altered innate immune profiles.Science translational medicine · 2025Observational
- Ribosomal S6 kinase signaling regulates neuronal viability during development and confers resistance to excitotoxic cell death in mature neurons.Neuroscience · 2024Article
- Airway management of a patient with coffin-lowry syndrome: a case report.BMC anesthesiology · 2024Article
- An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report.BMC pediatrics · 2023Article
- Activation and inhibition of the C-terminal kinase domain of p90 ribosomal S6 kinases.Life science alliance · 2023Article
- ERK1/2-RSK regulation of oestrogen homeostasis.The FEBS journal · 2023Review
- First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.Annals of pediatric endocrinology & metabolism · 2023Article
- BörjesonZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023Article
- Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with aFrontiers in genetics · 2023Article
- Development of an International Database for a Rare Genetic Disorder: TheChildren (Basel, Switzerland) · 2022Article
- Review
- Case Report: Chinese female patients with a heterozygous pathogenicFrontiers in genetics · 2022Article
- RSK1 vs. RSK2 Inhibitory Activity of the Marine β-Carboline Alkaloid Manzamine A: A Biochemical, Cervical Cancer Protein Expression, and Computational Study.Marine drugs · 2021Article
- Identification of a New Mutation inBrain sciences · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. CLS is caused by mutations in the RPS6KA3 gene located at Xp22.2, which encodes RSK2, a growth-factor-regulated protein kinase. RPS6KA3 mutations are extremely heterogeneous and lead to loss of phosphotransferase activity in the RSK2 kinase, most often because of premature termination of translation.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.