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Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, Sorenson AH, Pejin Z, Topouchian V, Quartier P, Cormier-Daire V, Dechaux M, Malandrinou FCh, Singhellakis PN, Le Merrer M, Econs MJ. Ichikawa S, et al. Among authors: pejin z. Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337. Am J Med Genet A. 2010. PMID: 20358599 Free PMC article.
Hip dislocation in 3-M syndrome: risk of misdiagnosis.
Badina A, Pejin Z, Odent T, Buzescu A, Huber C, Cormier-Daire V, Glorion C, Pannier S. Badina A, et al. Among authors: pejin z. Clin Dysmorphol. 2011 Apr;20(2):114-116. doi: 10.1097/MCD.0b013e328343f958. Clin Dysmorphol. 2011. PMID: 21383554 No abstract available.
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V. Marzin P, et al. Among authors: pejin z. Genet Med. 2021 Feb;23(2):331-340. doi: 10.1038/s41436-020-00994-x. Epub 2020 Oct 21. Genet Med. 2021. PMID: 33082559 Free article.
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
Dubail J, Rondeau S, Michot C, Baujat G, Capri Y, Thévenon J, Charpie M, Pejin Z, Phan G, Huber C, Cormier-Daire V. Dubail J, et al. Among authors: pejin z. J Bone Miner Res. 2024 Apr 19;39(3):287-297. doi: 10.1093/jbmr/zjad020. J Bone Miner Res. 2024. PMID: 38477767
35 results