A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death

Congenit Anom (Kyoto). 2021 Nov;61(6):231-233. doi: 10.1111/cga.12437. Epub 2021 Aug 18.

Authors

Montaha Al-Iede¹, Mariam Khanfar², Luma Srour³, Raja Rabah⁴, Mousa Al-Abbadi³, Bilal Azab³, Eman F Badran¹

Affiliations

¹ Department of Pediatrics, School of Medicine, The University of Jordan, Amman, Jordan.
² Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, Jordan.
³ Department of Pathology, Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, Jordan.
⁴ Department of Pathology, University of Michigan, Von-Voigtlander Women's Hospital, Ann Arbor, Michigan, USA.

PMID: 34245068
DOI: 10.1111/cga.12437

No abstract available

MeSH terms

ATP-Binding Cassette Transporters / genetics
Homozygote
Humans
Infant, Newborn
Mutation
Perinatal Death*
Respiratory Distress Syndrome, Newborn*

Substances

ABCA3 protein, human
ATP-Binding Cassette Transporters