[Clinical and genetic characterization of two Chinese children with Diencephalo-mesencephalic junction dysplasia syndrome type 1 due to compound heterozygous variants of PCDH12 gene].

Abstract excerpt

OBJECTIVE: To investigate the genetic etiology of two pediatric patients presenting with developmental delay and microcephaly. METHODS: Two patients diagnosed with developmental delay and microcephaly at the Children's Hospital of Nanjing Medical University in February 2023 and March 2024 were enrolled. Peripheral blood samples were collected from both children and their parents. Genomic DNA was extracted and...

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