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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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| Publicat a: | J Pediatr Genet |
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| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Georg Thieme Verlag KG
2015
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| Accés en línia: | 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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