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Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients
PURPOSE: Congenital growth hormone deficiency (GHD) is a rare and etiologically heterogeneous disease. We aim to screen disease-causing mutations of GHD in a relatively sizable cohort and discover underlying mechanisms via a candidate gene-based mutational burden analysis. METHODS: We retrospectivel...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8475633/ https://www.ncbi.nlm.nih.gov/pubmed/34589056 http://dx.doi.org/10.3389/fendo.2021.711991 |