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Qingyun Kang

Boston Children's Hospital

5

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3

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MORC2 gene de novo mutation leads to Charcot–Marie–Tooth disease type 2Z: A pediatric case report and literature review

2021 Medicine
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CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.

2021 Medicine
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A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report.

2021 BMC Pediatrics
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Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities

2020 Frontiers in Pediatrics
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Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report.

2020 BMC Pediatrics
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