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Article

CEP135 associated primary microcephaly-A rare presentation in early second trimester.

European journal of medical genetics - 1 Jul 2021

Nerakh Gayatri, Mounika K, Geeta K, Nalluri Hima Bindu

Abstract excerpt

Primary microcephaly (MCPH) is a rare neurogenic disorder with most cases being inherited in an autosomal recessive pattern. The present report is of a case of second gravid patient with recurrent fetal microcephaly with agenesis of corpus callosum, cerebellar hypoplasia and ventriculomegaly. Maternal TORCH profile and amniotic fluid chromosomal microarray were normal. Following the termination of pregnancy, the...

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Identifiers

PMID: 33933664
DOI: 10.1016/j.ejmg.2021.104233

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