Abstract

We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1.

Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Similar Papers

Paper Title
Journal
Date
Author
New reference ranges of procalcitonin excluding respiratory failure in neonates.
Tetsuo Naramura ... Hiroshi Mitsubuchi
Acta paediatrica Japonica : Overseas edition | VOL. 62
Tetsuo Naramura, et. al.Tetsuo Naramura ... Hiroshi Mitsubuchi
30 Sep 2020
Lethal Respiratory Failure and Mild Primary Hypothyroidism in a Term Girl with a de Novo Heterozygous Mutation in the TITF1/NKX2.1 Gene
Antoine Payot ... Yves Robitaille
The Journal of clinical endocrinology and metabolism | VOL. 94
Antoine Payot, et. al.Antoine Payot ... Yves Robitaille
28 Oct 2008
The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate.
Alnashmi Alanazi ... Abeermohammad Miqdad
Annals of thoracic medicine | VOL. 12
Alnashmi Alanazi, et. al.Alnashmi Alanazi ... Abeermohammad Miqdad
01 Jan 2017
Amniotic fluid embolism rescued using venoarterial extracorporeal membrane oxygenation without initial anticoagulation: A case report and literature review.
Hiroshi Araki ... Tetsuya Hara
Medicine | VOL. 103
Hiroshi Araki, et. al.Hiroshi Araki ... Tetsuya Hara
17 May 2024
View more papers

More From: Journal of perinatology : official journal of the California Perinatal Association

Paper Title
Journal
Date
Author
Correction: Early postpartum pumping behaviors, pumped milk volume, and achievement of secretory activation in breast pump-dependent mothers of preterm infants.
Rebecca Hoban ... Paula P Meier
Journal of perinatology : official journal of the California Perinatal Association | VOL. -
Rebecca Hoban, et. al.Rebecca Hoban ... Paula P Meier
23 Jul 2024
Is there a role for cohort studies after the publications of high-quality large RCTs on the association between erythropoietin and retinopathy of prematurity?
Kana Fukui ... Tetsuya Isayama
Journal of perinatology : official journal of the California Perinatal Association | VOL. -
Kana Fukui, et. al.Kana Fukui ... Tetsuya Isayama
23 Jul 2024
Detection of congenital heart disease by neonatologist performed cardiac ultrasound in preterm infants.
Bradley Macdonald ... Andrew Gill
Journal of perinatology : official journal of the California Perinatal Association | VOL. -
Bradley Macdonald, et. al.Bradley Macdonald ... Andrew Gill
23 Jul 2024
Adverse fetal/neonatal and obstetric outcomes in pregnancies with both maternal and fetal heart disease.
Beatriz A Fernandez-Campos ... Kim Haberer
Journal of perinatology : official journal of the California Perinatal Association | VOL. -
Beatriz A Fernandez-Campos, et. al.Beatriz A Fernandez-Campos ... Kim Haberer
23 Jul 2024
View more papers