ArticleMolecular syndromology2012
LEOPARD Syndrome: Clinical Features and Gene Mutations.
Article in Molecular syndromology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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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.
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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.
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Who cites it
34 citing papers in PubMed, 84 citations in OpenAlex.
- Molecular characterization of individuals with RASopathies: Spectrum of genetic variants in a large Indian cohort.Journal of genetics · 2026Article
- Orbital and Lumbosacral Plexiform Neurofibroma with PTPN11 Mutation: A Form of the RASopathy.Cureus · 2024Article
- Paternally Inherited Noonan Syndrome Caused by aGenes · 2024Review
- An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.Cardiovascular drugs and therapy · 2023Review
- Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines.Clinical case reports · 2023Article
- LEOPARD Syndrome with a SporadicCase reports in dermatological medicine · 2023Article
- Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.Genetics in medicine open · 2023Article
- Treatment of Facial Lentigines in an Adult Female Patient Suspected with Leopard Overlap Noonan Syndrome.International medical case reports journal · 2023Article
- Multimodality Imaging of LEOPARD Syndrome: Myocardial Hypertrophy With Diffuse Coronary Artery Dilation.JACC. Case reports · 2022Article
- Transcriptome Dynamics in the Developing Larynx, Trachea, and Esophagus.Frontiers in cell and developmental biology · 2022Article
- Case report: Clinical manifestations and genotype analysis of a child withFrontiers in pediatrics · 2022Article
- Role of Amine Neurotransmitters and Their Receptors in Skin Pigmentation: Therapeutic Implication.International journal of molecular sciences · 2021Review
- Application of CRISPR-Cas9 gene editing for congenital heart disease.Clinical and experimental pediatrics · 2021Article
- The Skin in Cowden Syndrome.Frontiers in medicine · 2021Review
- LEOPARD Syndrome withJournal of pediatric genetics · 2020Article
- Targeting a Pathogenic Cysteine Mutation: Discovery of a Specific Inhibitor of Y279C SHP2.Biochemistry · 2020Article
- Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines.JCI insight · 2020Article
- Review
- Cardiac Myxoma in a Patient With Hypertrophic Cardiomyopathy.JACC. Case reports · 2020Article
- Images of the month 2: A leopard never changes its spots.Clinical medicine (London, England) · 2020Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Though it is not included in the acronym, hypertrophic cardiomyopathy is the most frequent cardiac anomaly observed, representing a potentially life-threatening problem in these patients. PTPN11, RAF1 and BRAF are the genes known to be associated with LS, identifying molecular genetic testing of the 3 gene mutations in about 95% of affected individuals. PTPN11 mutations are the most frequently found. Eleven different missense PTPN11 mutations (Tyr279Cys/Ser, Ala461Thr, Gly464Ala, Thr468Met/Pro, Arg498Trp/Leu, Gln506Pro, and Gln510Glu/Pro) have been reported so far in LS, 2 of which (Tyr279Cys and Thr468Met) occur in about 65% of the cases. Here, we provide an overview of clinical aspects of this disorder, the molecular mechanisms underlying pathogenesis and major genotype-phenotype correlations.
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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.