Article

RRP7A links primary microcephaly to radial glial cells and dysfunction of ribosomal biogenesis, neurogenesis and ciliary resorption

2019-10-10

Abstract excerpt

<h4>Introductory paragraph</h4> Primary microcephaly (MCPH) is characterized by reduced brain size and intellectual disability 1 . The exact pathophysiological mechanism underlying MCPH remains to be elucidated, but dysfunction of neuronal progenitors in the developing neocortex plays a major role 1 . Using homozygosity mapping and whole exome sequencing, we identified a homozygous missense mutation (p.W155C) i...

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Literature Corpus work: eef791d1-fd83-5305-bc29-d2a5db76994f
DOI: 10.1101/793877

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