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Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
Hum Mol Genet. 2015 Oct 1;24(19):5378-87. doi: 10.1093/hmg/ddv261. Epub 2015 Jul 10.
Hum Mol Genet. 2015.
PMID: 26162852
Review.
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.
Cetinkaya A, Xiong JR, Vargel İ, Kösemehmetoğlu K, Canter Hİ, Gerdan ÖF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan Ş, Sağıroğlu MŞ, Takahashi T, Reversade B, Akarsu NA.
Cetinkaya A, et al. Among authors: gerdan of.
Am J Hum Genet. 2016 Aug 4;99(2):299-317. doi: 10.1016/j.ajhg.2016.06.008. Epub 2016 Jul 28.
Am J Hum Genet. 2016.
PMID: 27476657
Free PMC article.
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A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.
Dursun A, Yalnizoglu D, Gerdan OF, Yucel-Yilmaz D, Sagiroglu MS, Yuksel B, Gucer S, Sivri S, Ozgul RK.
Dursun A, et al. Among authors: gerdan of.
Clin Dysmorphol. 2017 Jan;26(1):1-12. doi: 10.1097/MCD.0000000000000149.
Clin Dysmorphol. 2017.
PMID: 27547915
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