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A rare mutation in the EPG5 gene causes Vici syndrome.
Demiral E, Sen A, Esener Z, Ceylaner S, Tekedereli I. Demiral E, et al. Among authors: esener z. Clin Dysmorphol. 2018 Oct;27(4):145-147. doi: 10.1097/MCD.0000000000000233. Clin Dysmorphol. 2018. PMID: 29944490 No abstract available.
A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation.
Erdogan MA, Seckin Y, Harputluoglu MM, Karincaoglu M, Aladag M, Caliskan AR, Bilgic Y, Yildirim O, Cagin YF, Atayan Y, Cengiz AN, Emul C, Esener Z, Erbay MF, Tekedereli I. Erdogan MA, et al. Among authors: esener z. Clin Dysmorphol. 2019 Jan;28(1):22-25. doi: 10.1097/MCD.0000000000000250. Clin Dysmorphol. 2019. PMID: 30407211
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