ReviewJournal of medical genetics2002
Coffin-Lowry syndrome: clinical and molecular features.
Review in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 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
57 citing papers in PubMed, 148 citations in OpenAlex.
- Challenges in Diagnosis and Management of Coffin-Lowry Syndrome-Single-Center Experience.Diagnostics (Basel, Switzerland) · 2026Article
- RSK1 and RSK2 as therapeutic targets: an up-to-date snapshot of emerging data.Expert opinion on therapeutic targets · 2024Review
- An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report.BMC pediatrics · 2023Article
- G protein-coupled receptors as targets for transformative neuropsychiatric therapeutics.American journal of physiology. Cell physiology · 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
- p90RSK2, a new MLCK mediates contractility in myosin light chain kinase null smooth muscle.Frontiers in physiology · 2023Article
- Therapeutic targeting of p90 ribosomal S6 kinase.Frontiers in cell and developmental biology · 2023Review
- Article
- Coffin-Lowry Syndrome Induced byMedicina (Kaunas, Lithuania) · 2022Article
- Case Report: Chinese female patients with a heterozygous pathogenicFrontiers in genetics · 2022Article
- Identification of a New Mutation inBrain sciences · 2021Article
- Embryology, Malformations, and Rare Diseases of the Cochlea.Laryngo- rhino- otologie · 2021Article
- Accelerated tooth movement in Rsk2-deficient mice with impaired cementum formation.International journal of oral science · 2020Article
- Deleterious mutations inNPJ genomic medicine · 2019Article
- The natural history of spinal deformity in patients with Coffin-Lowry syndrome.Journal of children's orthopaedics · 2018Article
- Perioperative management of a patient with Coffin-Lowry syndrome complicated by severe obesity: A case report and literature review.Medicine · 2017Article
- Update on 13 Syndromes Affecting Craniofacial and Dental Structures.Frontiers in physiology · 2017Review
- Article
- 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability.Journal of human genetics · 2015Article
- PLD1 participates in BDNF-induced signalling in cortical neurons.Scientific reports · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. Mild progression in facial coarsening occurs during childhood and adult life. The hands are broad with soft, stubby, tapering fingers. Other clinical findings include short stature (95%), a pectus deformity (80%), a kyphosis and/or scoliosis (80%), mitral valve dysfunction, and sensorineural hearing loss. The causal gene, RSK2, was identified in 1996 and contains 22 exons which encode a protein of 740 amino acids. Over 75 distinct pathogenic mutations have been identified in 250 unrelated CLS patients.
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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.