ArticleTranslational pediatrics2026
Cardioacrofacial dysplasia 1: a case report and literature review.
Article in Translational pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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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3 authors.
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Abstract
Background: Cardioacrofacial dysplasia 1 [CAFD1; Online Mendelian Inheritance in Man (OMIM): #619142] is a rare skeletal ciliopathy caused by pathogenic variants in the Case Description: A 10-year-old male patient presented with short stature, progressive bilateral knee deformities, post-axial posterior polydactyly, and hypoplasia of teeth and nails since infancy. He had a history of partial atrial septal defect, functional single atrium, and pulmonary valve stenosis, undergoing cardiac repair at age 5 and bilateral polydactyly resection at age 7. Whole-exome sequencing (WES) confirmed a Conclusions: To our knowledge, this expands the known geographic distribution with
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