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Primary pulmonary hypoplasia masquerading as pneumonia in a preterm neonate and creating a diagnostic challenge: a case report.
Decreased Level of TMEM100 in Neonates With Lethal Lung Developmental Disorders due to Abnormalities in SHH-FOXF1 and TBX4-FGF10 Signaling Pathways.
Primary Pulmonary Hypoplasia With Congenital Alveolar Dysplasia Associated With TBX4 Gene Deletion: A Case With Autopsy and Molecular Findings.
Pulmonary Manifestations of Genetic Disorders in Children.
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.