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Chinese Journal of Pediatrics

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Heterozygous variation identified in PDE4D gene caused acrodysostosis

Chinese Journal of Pediatrics, Volume 57, Issue 11,2019, Pages 889-890, doi:10.3760/cma.j.issn.0578-1310.2019.11.016

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Clinical features of 54 cases of leukoencephalopathy with vanishing white matter disease in children

Chinese Journal of Pediatrics, Volume 57, Issue 11,2019, Pages 837-843, doi:10.3760/cma.j.issn.0578-1310.2019.11.005

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Mainzer?Saldino syndrome caused by IFT140 gene variation

Chinese Journal of Pediatrics, Volume 57, Issue 11,2019, Pages 884-886, doi:10.3760/cma.j.issn.0578-1310.2019.11.014

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