Article

Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies In A Consanguineous Iranian Family Is Associated With A Novel Homozygous Start Loss Variant In The PRUNE1 Gene

2021-09-14

Abstract excerpt

<h4>Background: </h4> Homozygous or compound heterozygous PRUNE1 mutations cause a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain malformations (NMIHBA) (OMIM #617481). The PRUNE1 gene encodes a member of the phosphoesterase (DHH) protein superfamily that is involved in the regulation of cell migration. To date, most of the described mutations in the PRUNE1 gene are clustered in DHH d...

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Literature Corpus work: 196cf710-7f96-5949-9b0e-7a3c890febeb
DOI: 10.21203/rs.3.rs-789457/v1

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