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A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death
dc.contributor.authorAl‐Iede, Montaha
dc.contributor.authorKhanfar, Mariam
dc.contributor.authorSrour, Luma
dc.contributor.authorRabah, Raja
dc.contributor.authorAl‐Abbadi, Mousa
dc.contributor.authorAzab, Bilal
dc.contributor.authorBadran, Eman F.
dc.date.accessioned2021-12-02T02:30:56Z
dc.date.available2022-12-01 21:30:54en
dc.date.available2021-12-02T02:30:56Z
dc.date.issued2021-11
dc.identifier.citationAl‐Iede, Montaha ; Khanfar, Mariam; Srour, Luma; Rabah, Raja; Al‐Abbadi, Mousa ; Azab, Bilal; Badran, Eman F. (2021). "A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death." Congenital Anomalies 61(6): 231-233.
dc.identifier.issn0914-3505
dc.identifier.issn1741-4520
dc.identifier.urihttps://hdl.handle.net/2027.42/171017
dc.publisherJohn Wiley & Sons Australia, Ltd
dc.titleA homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelPediatrics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/171017/1/cga12437.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/171017/2/cga12437_am.pdf
dc.identifier.doi10.1111/cga.12437
dc.identifier.sourceCongenital Anomalies
dc.identifier.citedreferenceWambach JA, Casey AM, Fishman MP, et al. Genotype- phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med. 2014; 189 ( 12 ): 1538 - 1543. https://doi.org/10.1164/rccm.201402-0342OC
dc.identifier.citedreferenceFlamein F, Riffault L, Muselet- charlier C, et al. Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children. Hum Mol Genet. 2012; 21 ( 4 ): 765 - 775. https://doi.org/10.1093/hmg/ddr508
dc.identifier.citedreferenceRezaei F, Shafiei M, Shariati G, Dehdashtian A, Mohebbi M, Galehdari H. Novel mutation in the ATP- binding cassette transporter A3 ( ABCA3 ) encoding gene causes respiratory distress syndrome in a term newborn in Southwest Iran. Iran J Pediatr. 2016; 26 ( 2 ): e2493. https://doi.org/10.5812/ijp.2493
dc.identifier.citedreferenceDenman L, Yonker LM, Kinane TB. The classification of ATP- binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system. Pediatr Investig. 2018; 2 ( 1 ): 17 - 24. https://doi.org/10.1002/ped4.12020
dc.working.doiNOen
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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