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A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra

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摘要 Craniosynostosis is a rare disease in which one or more of the cranial sutures in an infant skull prematurely fuses by turning into bone,with a prevalence of 1 in 2,000—2,500 individuals from reports in Western countries(Wilkie et al.,2017).It may restrict the growth of the brain,leading to some degree of morphological and functional abnormalities,and may affect the neurocognitive function of infants(Lattanzi et al.,2017).Genetic variants underlying craniosynostosis have been identified in cohort studies in Western populations.
出处 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2021年第2期167-171,共5页 遗传学报(英文版)
基金 supported by the foundation of Shanghai municipal commission of Health and Family Planning(20174Y0088) the Shanghai Municipal Science and Technology Major Project(2017SHZDZX01) the CAS Interdisciplinary Innovation Team Project the NIHR Oxford Biomedical Research Centre Programme。
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