Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

Overview of attention for article published in Journal of Translational Medicine, August 2019

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Named twinkle as its expression pattern resembles stars ;) #DoingScience

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A @BMC_series study identifies variants in the TWNK gene associated with Perrault syndrome #CitedEnsembl https://t.co/ZpoeGFXD2N #genetics #sequencing https://t.co/WamV2JX058

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PubMed-https://t.co/AJr87n2ybb Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders Texto completo https://t.co/dcjWF1idrG #publiHUCA @HUCA_Asturias

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