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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Detalles Bibliográficos
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

Internet

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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