Article

<i>Copb2</i> is essential for embryogenesis and hypomorphic mutations cause human microcephaly

2017-05-08

Abstract excerpt

Primary microcephaly is a congenital brain malformation characterized by a head circumference less than three standard deviations below the mean for age and sex and results in moderate to severe mental deficiencies and decreased lifespan. We recently studied two children with primary microcephaly in an otherwise unaffected family. Exome sequencing identified an autosomal recessive mutation leading to an amino acid...

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Literature Corpus work: 01779ff2-34df-5ff2-98f7-5f4e2301d14b
DOI: 10.1101/135236

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