Autor: Tao Zhang
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Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH–SCKS in a Chinese pregnant woman across two consecutive pregnancies
BackgroundPrimary autosomal recessive microcephaly and Seckel syndrome spectrum (MCPH–SCKS) disorders are a group of autosomal recessive conditions characterized by severe growth retardation and neurodevelopmental impairment. CEP152 variants are establ…