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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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| Publicado no: | Int J Pediatr Endocrinol |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4360929/ https://ncbi.nlm.nih.gov/pubmed/25780367 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13633-015-0003-5 |
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