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Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.
Clin Genet. 2019 Apr;95(4):496-506. doi: 10.1111/cge.13507.
Clin Genet. 2019.
PMID: 30666632
Free article.
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.
Balasubramanian M, Fratzl-Zelman N, O'Sullivan R, Bull M, Fa Peel N, Pollitt RC, Jones R, Milne E, Smith K, Roschger P, Klaushofer K, Bishop NJ.
Balasubramanian M, et al.
Am J Med Genet A. 2018 Jul;176(7):1578-1586. doi: 10.1002/ajmg.a.38830. Epub 2018 May 7.
Am J Med Genet A. 2018.
PMID: 29736964
Free article.
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