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Case report: tuberous sclerosis and persistent hyperplastic primary vitreous.
BMC Ophthalmol. 2022 Jul 16;22(1):308. doi: 10.1186/s12886-022-02526-4.
BMC Ophthalmol. 2022.
PMID: 35842607
Free PMC article.
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K.
Jacobsen JC, et al. Among authors: handisides s.
Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26.
Case Rep Genet. 2015.
PMID: 26587300
Free PMC article.
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