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21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification.
Eur J Med Genet. 2020 Apr;63(4):103782. doi: 10.1016/j.ejmg.2019.103782. Epub 2019 Oct 2.
Eur J Med Genet. 2020.
PMID: 31586465
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer S, Witsch-Baumgartner M, Hoeppner W.
Baumgartner-Parzer S, et al.
Eur J Hum Genet. 2020 Oct;28(10):1341-1367. doi: 10.1038/s41431-020-0653-5. Epub 2020 Jul 2.
Eur J Hum Genet. 2020.
PMID: 32616876
Free PMC article.
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