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Article

Novel mutation in the SETD1A gene in a newborn patient associating with congenital airway and heart defeats: A case report.

Medicine - 31 Mar 2023

Jin Long, Mo Wendi, Yan Yu, Wang Ying

Abstract excerpt

RATIONALE: Congenital malformations are commonly associated with genetic disorders in infants and children. PATIENT CONCERNS: A 13-day-old male infant was admitted to our hospital presenting with aggravated dyspnea and characteristic facial and body features. Examinations during hospitalization found congenital bronchomalacia and heart defects including atrial septal defect, patent ductus arteriosus, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37000069
DOI: 10.1097/MD.0000000000033449
PMCID: PMC10063285

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