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TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Among authors: percin f. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P. Hussain MS, et al. Among authors: percin f. Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439729 Free PMC article.
Paris-Trousseau-type macrothrombocytopenia without 11q deletion.
Kaya Z, Kocak U, Perçin F, Kunishima S, Albayrak M, Gursel T, Ozogul C. Kaya Z, et al. Among authors: percin f. Pediatr Int. 2010 Apr;52(2):e67-71. doi: 10.1111/j.1442-200X.2010.03043.x. Pediatr Int. 2010. PMID: 20500464 No abstract available.
46 XX male syndrome with hypogonadotropic hypogonadism: A case report.
Yalcin MM, Ozkan C, Akturk M, Percin FE, Altinova A, Karakoc A, Ayvaz G, Cakir N. Yalcin MM, et al. North Clin Istanb. 2018 Sep 5;6(3):308-311. doi: 10.14744/nci.2018.57625. eCollection 2019. North Clin Istanb. 2018. PMID: 31650121 Free PMC article.
52 results