Neonatal Lung Disease Associated with TBX4 Mutations.
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ABSTRACT:
SUBMITTER: Suhrie K
PROVIDER: S-EPMC6389379 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Publications
Neonatal Lung Disease Associated with TBX4 Mutations.
Suhrie Kristen K Pajor Nathan M NM Ahlfeld Shawn K SK Dawson D Brian DB Dufendach Kevin R KR Kitzmiller Joseph A JA Leino Daniel D Lombardo Rachel C RC Smolarek Teresa A TA Rathbun Pamela A PA Whitsett Jeffrey A JA Towe Christopher C Wikenheiser-Brokamp Kathryn A KA
The Journal of pediatrics 20181107
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. ...[more]
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