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Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.
Clin Genet. 2020 May;97(5):779-784. doi: 10.1111/cge.13725. Epub 2020 Feb 24.
Clin Genet. 2020.
PMID: 32067224
A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.
Mathorne SW, Sørensen K, Fagerberg C, Bode M, Hertz JM.
Mathorne SW, et al.
BMC Neurol. 2019 Apr 12;19(1):60. doi: 10.1186/s12883-019-1292-8.
BMC Neurol. 2019.
PMID: 30979360
Free PMC article.
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