Clinical Case Reports
Intermediate‐Phenotype ABCA3 Deficiency Caused by Compound Heterozygous Variants Presenting as Persistent Respiratory Failure and Systemic Hypertension Since Birth in a Term Infant: A Case Report
Par Ammir Abuzahra, Mohamad Abu Mayalah, Mahmoud Abdelrazzaq Abu Mayaleh et 3 autres.
Contenu en anglais
Résumé
ABSTRACT ABCA3 deficiency should be suspected in term infants with persistent respiratory distress from birth. This case highlights how early whole‐exome sequencing established the diagnosis after extensive investigations, identified an intermediate phenotype caused by compound heterozygous variants, and guided targeted multidisciplinary management.