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Published in 2022 at "Asian Cardiovascular and Thoracic Annals"
DOI: 10.1177/02184923221123879
Abstract: Coffin–Lowry syndrome is a rare X-linked disorder that shows a varied clinical presentation. We report cardiac involvement, particularly abnormalities of mitral valve morphology, in a 14-year-old male adolescent with a known diagnosis of Coffin–Lowry syndrome,…
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Keywords:
lowry syndrome;
valve repair;
mitral valve;
tricuspid annuloplasty ... See more keywords
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Published in 2022 at "Journal of Investigative Medicine High Impact Case Reports"
DOI: 10.1177/23247096221101844
Abstract: Pathogenic variants in RPS6KA3 are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability, stimulus-induced drop attacks, distinctive facial features, progressive kyphoscoliosis, and digit anomalies in hemizygous males. Heterozygous females may…
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Keywords:
lowry syndrome;
hypercalcemia;
cls;
phenotypic variation ... See more keywords