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Clinical and genetic spectrum of pediatric mitochondrial disorders in china: insights from a 47-case genetically confirmed cohort.
Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.
Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study.
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.