File:2020 case report - patient with DNAJC12 deficiency before and after therapy.png

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2020_case_report_-_patient_with_DNAJC12_deficiency_before_and_after_therapy.png ‎(545 × 316 pixels, file size: 51 KB, MIME type: image/png)

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Developmental assessment of a young patient with DNAJC12 deficiency - before and after treatment

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Description
English: Developmental assessment of a young patient with DNAJC12 deficiency - before and after treatment. Part (b) from Figure 2 of a case report by Mengting et al., 2020. A quote: "(b) Gesell developmental assessment of the patient. Development quotient (DQ) score was the parameter for evaluating development. DQ > 85: normal; 55 < DQ < 75: mild impairment; 40 < DQ < 55: moderate impairment; 25 < DQ < 40: severe impairment"
Date
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434608/

"Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia"
Author Mengting Li, Qi Yang, Sheng Yi, Zailong Qin, Jingsi Luo, and Xin Fan

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current22:43, 30 May 2023Thumbnail for version as of 22:43, 30 May 2023545 × 316 (51 KB)CopperKettle (talk | contribs)Uploaded a work by Mengting Li, Qi Yang, Sheng Yi, Zailong Qin, Jingsi Luo, and Xin Fan from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434608/ "Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia" with UploadWizard

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