Associated Papers
Refractory Peripheral Pulmonary Stenosis and Severe Pulmonary Arterial Hypertension Associated With a De Novo Loss-of-Function Variant in FGD5.
Steffes LC et al.
Pulmonary Circulation, 2026
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Wambach JA et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Towards personalized therapies for genetic disorders of surfactant dysfunction.
Peers de Nieuwburgh M et al.
Seminars in Fetal & Neonatal Medicine, 2023
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.
Desroziers T et al.
European Journal of Human Genetics : Ejhg, 2023
Genetic disorders of the surfactant system: focus on adult disease.
van Moorsel CHM et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2021
Genetic disorders of surfactant protein dysfunction: when to consider and how to investigate.
Gupta A et al.
Archives of Disease in Childhood, 2017
Genetic testing in children with surfactant dysfunction.
Turcu S et al.
Archives of Disease in Childhood, 2013
Difficulties in the treatment of an infant survivor with inherited surfactant protein-B deficiency in Tunisia.
Hamouda S et al.
Annals of Thoracic Medicine, 0
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