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Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
BMC Med Genomics. 2017 Oct 30;10(1):62. doi: 10.1186/s12920-017-0298-6.
BMC Med Genomics. 2017.
PMID: 29084544
Free PMC article.
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.
Leach NT, Wilson Mathews DR, Rosenblum LS, Zhou Z, Zhu H, Heim RA.
Leach NT, et al.
Genet Med. 2019 Feb;21(2):417-425. doi: 10.1038/s41436-018-0062-0. Epub 2018 Jun 15.
Genet Med. 2019.
PMID: 29907801
Free article.
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