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Your search keyword '"Wikenheiser-Brokamp KA"' showing total 4 results
Start Over Author "Wikenheiser-Brokamp KA" Journal journal of pediatrics
4 results on '"Wikenheiser-Brokamp KA"'

2. Neonatal Lung Disease Associated with TBX4 Mutations.

Author

Suhrie K, Pajor NM, Ahlfeld SK, Dawson DB, Dufendach KR, Kitzmiller JA, Leino D, Lombardo RC, Smolarek TA, Rathbun PA, Whitsett JA, Towe C, and Wikenheiser-Brokamp KA

Subjects
Female, Humans, Infant, Newborn, Male, Mutation genetics, Respiratory Insufficiency genetics, Respiratory Insufficiency pathology, T-Box Domain Proteins genetics
Abstract

Variable lung disease was documented in 2 infants with heterozygous TBX4 mutations; their clinical presentations, pathology, and outcomes were distinct. These findings demonstrate that TBX4 gene mutations are associated with neonatal respiratory failure and highlight the wide spectrum of clinicopathological outcomes that have implications for patient diagnosis and management., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Published
2019
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