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A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family

Congenital hypothyroidism (CH) is the most common neonatal endocrine disease, and germ-line mutations in the TPO gene cause the inherited form of the disease. Our aim in this study was to determine the genetic basis of congenital hypothyroidism in three affected children coming from a consanguineous...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Cangul, Hakan, Aydin, Banu K., Bas, Firdevs
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2015
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4906531/
https://ncbi.nlm.nih.gov/pubmed/27617131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1565268
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