[Research progress of genetic study on Filippi syndrome].

Abstract excerpt

Filippi syndrome is a rare autosomal recessive genetic disorder characterized primarily by syndactyly, microcephaly, distinctive facial features, and intellectual disability. It may also involve multiple systemic manifestations including growth retardation, language disorders, visual impairment, cryptorchidism, abnormal dental and skeletal development, and so forth. The pathogenic gene associated with Filippi...

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