Literature DB >> 23361500

Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate.

E S Gillett1, G H Deutsch, M J Bamshad, R M McAdams, P C Mann.   

Abstract

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

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Year:  2013        PMID： 23361500     DOI： 10.1038/jp.2012.50

Source DB:  PubMed          Journal:  J Perinatol        ISSN： 0743-8346            Impact factor:   2.521


  5 in total

Review 1.  The molecular causes of thyroid dysgenesis: a systematic review.

Authors:  I C Nettore; V Cacace; C De Fusco; A Colao; P E Macchia
Journal:  J Endocrinol Invest       Date:  2013-05-22       Impact factor: 4.256

2.  Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

Authors:  Anne Thorwarth; Sarah Schnittert-Hübener; Pamela Schrumpf; Ines Müller; Sabine Jyrch; Christof Dame; Heike Biebermann; Gunnar Kleinau; Juri Katchanov; Markus Schuelke; Grit Ebert; Anne Steininger; Carsten Bönnemann; Knut Brockmann; Hans-Jürgen Christen; Patricia Crock; Francis deZegher; Matthias Griese; Jacqueline Hewitt; Sten Ivarsson; Christoph Hübner; Klaus Kapelari; Barbara Plecko; Dietz Rating; Iva Stoeva; Hans-Hilger Ropers; Annette Grüters; Reinhard Ullmann; Heiko Krude
Journal:  J Med Genet       Date:  2014-04-08       Impact factor: 6.318

3.  Interstitial lung disease of infancy caused by a new NKX2-1 mutation.

Authors:  Khalid H Safi; John A Bernat; Catherine E Keegan; Ayesha Ahmad; Marc B Hershenson; Manuel Arteta
Journal:  Clin Case Rep       Date:  2017-04-04

4.  Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.

Authors:  Steffi Thust; Liana Veneziano; Michael H Parkinson; Kailash P Bhatia; Elide Mantuano; Cristina Gonzalez-Robles; Indran Davagnanam; Paola Giunti
Journal:  Neurogenetics       Date:  2022-01-25       Impact factor: 2.660

Review 5.  A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.

Authors:  Liana Veneziano; Michael H Parkinson; Elide Mantuano; Marina Frontali; Kailash P Bhatia; Paola Giunti
Journal:  Cerebellum       Date:  2014-10       Impact factor: 3.847
  5 in total

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