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Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice
Next-generation sequencing (NGS) is increasingly being used in a clinical setting for the molecular diagnosis of patients with heterogeneous disorders, such as premature ovarian insufficiency (POI). We performed NGS of ~1000 candidate genes in four unrelated patients with POI. We discovered the gene...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6117257/ https://ncbi.nlm.nih.gov/pubmed/29706645 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0140-4 |
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