Go to content
UR Home

Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis

Kleinlein, B., Griese, M., Liebisch, Gerhard , Krude, H., Lohse, Peter, Aslanidis, Charalampos and Schmitz, Gerd (2011) Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis. Archives of Disease in Childhood / Fetal and Neonatal 96, F453-F456.

[img]
Preview
License: Allianz- bzw. Nationallizenz
PDF - Published Version
Download (191kB)
Date of publication of this fulltext: 04 Sep 2017 08:55

at publisher (via DOI)


Abstract

Defects of the NKX2-1 gene, encoding thyroid transcription factor-1, cause brain-thyroid-lung syndrome (MIM 610978), characterised by benign hereditary chorea, congenital hypothyroidism and respiratory disease. The case of a term infant with mild primary congenital hypothyroidism and neonatal persistent respiratory failure with fatal outcome at 10 months of age despite continuous ventilatory ...

plus


Export bibliographical data



Item type:Article
Date:2011
Institutions:Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin
Identification Number:
ValueType
10.1136/adc.2009.180448DOI
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:36135
Owner only: item control page

Downloads

Downloads per month over past year

  1. Homepage UR

University Library

Publication Server

Contact:

Publishing: oa@ur.de

Dissertations: dissertationen@ur.de

Research data: daten@ur.de

Contact persons