ArticleFrontiers in genetics2018
Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of
Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 5 citations in OpenAlex.
- Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.EBioMedicine · 2025Article
- Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.International journal of molecular sciences · 2021Review
- A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.BMC medical genomics · 2020Article
- Synemin Redefined: Multiple Binding Partners Results in Multifunctionality.Frontiers in cell and developmental biology · 2020Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
"Heart-hand" type syndromes represent a group of rare congenital conditions that combine cardiac pathology (structural defect or arrhythmic disorder) and limb abnormality. Significant clinical variability and genetic heterogeneity typical for such syndromes complicate correct diagnosis, prognosis, and appropriate genetic counseling of the affected families. By now, only single genes have been unambiguously determined as a genetic cause of heart-hand syndromes and phenotypically similar conditions. In the present study, we report on a 25-year-old Russian female patient with a clinical picture resembling ulnar-mammary syndrome (UMS). Principal clinical manifestations included heart septal fibrosis and non-sustained left ventricular tachycardia combined with fifth finger camptodactyly, hypoplastic breast, abnormal teeth, and mental retardation. Target Sanger sequencing and array-based comparative genome hybridization confirmed the lack of pathogenic mutations and large-scale deletions in
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