De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia.

Abstract excerpt

OBJECTIVE: Skeletal dysplasia caused by genetic mutations places a heavy burden on families and society. This study was performed to precise diagnosis of variants of unknown significance and to expand the genotypic spectrum of lethal skeletal dysplasia. METHODS: According to the ultrasonic phenotype of the proband and whole-exome sequencing results, variation sites or genes that may be related to the disease were...

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