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Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders

9 Dec 2022

Abstract excerpt

BACKGROUND: Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome sequencing (WES) were performed to reveal the phenotypic and genotypic characteristics in a cohort of Chinese CCDDs patients. RESULTS: A total of 122 CCDDs patients from 96 families were enrolled....

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PMID: 36494820
DOI: 10.1186/s13023-022-02582-5

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