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Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder with a genetic origin. The purpose of the present study was to analyze the mutation spectrum of CH patients in China. A targeted next-generation sequencing panel covering all exons of 29 CH-related causative genes was used...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248516/ https://www.ncbi.nlm.nih.gov/pubmed/32319661 http://dx.doi.org/10.3892/mmr.2020.11078 |