Congenital nystagmus and central hypothyroidism

We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mutations are known to cause, respectively, congenital nystagmus and the ensemble of centr...

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Autores principales: Reynaert, Nele, Braat, Elke, de Zegher, Francis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360929/
https://www.ncbi.nlm.nih.gov/pubmed/25780367
http://dx.doi.org/10.1186/s13633-015-0003-5
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author Reynaert, Nele
Braat, Elke
de Zegher, Francis
author_facet Reynaert, Nele
Braat, Elke
de Zegher, Francis
author_sort Reynaert, Nele
collection PubMed
description We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mutations are known to cause, respectively, congenital nystagmus and the ensemble of central hypothyroidism, hypoprolactinemia and testicular enlargement. These latter two features may not yet be present in early life.
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spelling pubmed-43609292015-03-17 Congenital nystagmus and central hypothyroidism Reynaert, Nele Braat, Elke de Zegher, Francis Int J Pediatr Endocrinol Letter to the Editor We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mutations are known to cause, respectively, congenital nystagmus and the ensemble of central hypothyroidism, hypoprolactinemia and testicular enlargement. These latter two features may not yet be present in early life. BioMed Central 2015-03-16 2015 /pmc/articles/PMC4360929/ /pubmed/25780367 http://dx.doi.org/10.1186/s13633-015-0003-5 Text en © Reynaert et al.; licensee Biomed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Letter to the Editor
Reynaert, Nele
Braat, Elke
de Zegher, Francis
Congenital nystagmus and central hypothyroidism
title Congenital nystagmus and central hypothyroidism
title_full Congenital nystagmus and central hypothyroidism
title_fullStr Congenital nystagmus and central hypothyroidism
title_full_unstemmed Congenital nystagmus and central hypothyroidism
title_short Congenital nystagmus and central hypothyroidism
title_sort congenital nystagmus and central hypothyroidism
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360929/
https://www.ncbi.nlm.nih.gov/pubmed/25780367
http://dx.doi.org/10.1186/s13633-015-0003-5
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