A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family

OBJECTIVE: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, and mutations in the thyroid peroxidase (TPO) gene have been reported to cause the disease. Our aim in this study was to determine the genetic basis of CH in two affected children coming from a consanguineous f...

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Detalles Bibliográficos
Autores principales: Cangül, Hakan, Doğan, Murat, Üstek, Duran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805212/
https://www.ncbi.nlm.nih.gov/pubmed/26777044
http://dx.doi.org/10.4274/jcrpe.1920

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805212/
https://www.ncbi.nlm.nih.gov/pubmed/26777044
http://dx.doi.org/10.4274/jcrpe.1920

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