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Article Abstract
Holt-Oram syndrome comprises a rare spectrum of congenital cardiovascular and appendicular skeletal anomalies. However, only a few cases have reported lung involvement in Holt-Oram syndrome. We reported the rare case of a 1-year-old male child patient who presented with upper limb abnormalities and respiratory distress and was diagnosed with pulmonary agenesis and pulmonary arterial hypertension secondary to an atrial septal defect.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10972646 | PMC |
| http://dx.doi.org/10.1055/s-0043-1776882 | DOI Listing |
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Atypical Holt-Oram syndrome: Early-onset sick sinus syndrome in a Japanese family with a novel mutation, Q469.
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