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IFITM5-related (type V) osteogenesis imperfecta with evidence of perinatal involvement: A case report.
Bone Rep. 2024 Apr 17;21:101766. doi: 10.1016/j.bonr.2024.101766. eCollection 2024 Jun.
Bone Rep. 2024.
PMID: 38681748
Free PMC article.
Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.
León-Madero LF, Fregoso-Ron CH, De León-Carbajal JC, Valdés-Miranda JM.
León-Madero LF, et al.
Mol Genet Genomic Med. 2024 May;12(5):e2451. doi: 10.1002/mgg3.2451.
Mol Genet Genomic Med. 2024.
PMID: 38760995
Free PMC article.
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