ArticleFrontiers in pediatrics2018
Growth Concerns in Coffin-Lowry Syndrome: A Case Report and Literature Review.
Article in Frontiers in pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.Frontiers in genetics · 2025Pooled it
- [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
- Case Report: Clinical management of a severe DBA patient with a novel RPS19 mutation.Frontiers in pediatrics · 2025Article
- Coffin-Lowry Syndrome Induced byMedicina (Kaunas, Lithuania) · 2022Article
- Case Report: Chinese female patients with a heterozygous pathogenicFrontiers in genetics · 2022Article
- Complex Phenotypes: Mechanisms Underlying Variation in Human Stature.Current osteoporosis reports · 2019Review
- Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.Journal of investigative medicine high impact case reportsArticle
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, an X-linked syndrome. The case here reported manifests its signature characteristic of short stature, facial dysmorphism, development retardation, hearing defect. The mutation of RPS6KA3 we detected by NGS analysis is c.2185 C > T. The short stature is a noteworthy problem we discuss here to improve the patient's growth and development. The efficacy and safety of application of growth hormone analogs on patients with CLS are not confirmed and need to be carefully considered.
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.