Article

Prenatal phenotype of <i>PNKP</i>-related primary microcephaly associated with variants in the FHA and Phosphatase domain

2021-09-28

Abstract excerpt

<h4>ABSTRACT</h4> Biallelic PNKP variants cause heterogeneous disorders ranging from neurodevelopmental disorder with microcephaly/seizures to adult-onset Charcot-Marie-Tooth disease. To date, only postnatal descriptions exist. We present the first prenatal diagnosis of PNKP -related primary microcephaly. Detailed pathological examination of a male fetus revealed micrencephaly with extracerebral malformations and...

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Literature Corpus work: bc7cbf9e-d70a-5f17-bc51-3f1155a485e8
DOI: 10.1101/2021.09.25.21261035

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