Neonatal Lung Disease Associated with TBX4 Mutations

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 clinicopath...

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Veröffentlicht in:	The Journal of pediatrics 2019-03, Vol.206, p.286-292.e1
Hauptverfasser:	Suhrie, Kristen, Pajor, Nathan M., Ahlfeld, Shawn K., Dawson, D. Brian, Dufendach, Kevin R., Kitzmiller, Joseph A., Leino, Daniel, Lombardo, Rachel C., Smolarek, Teresa A., Rathbun, Pamela A., Whitsett, Jeffrey A., Towe, Christopher, Wikenheiser-Brokamp, Kathryn A.
Format:	Artikel
Sprache:	eng
Schlagworte:	ABCA3 congenital alveolar dysplasia congenital anomaly Female Humans Infant, Newborn lung development Male Mutation - genetics pulmonary hypoplasia Respiratory Insufficiency - genetics Respiratory Insufficiency - pathology T-Box Domain Proteins - genetics T-box transcription factor TBX2 TBX4
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Zusammenfassung:	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.
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2018.10.018