Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient
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DOI: 10.1038/s41439-020-0105-3
Abstract: Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Patients with MCPH present head circumference values two or three standard deviations (SDs) significantly below the mean for age- and… read more here.
Keywords: primary microcephaly; context cenpj; cenpj variants; unusual context ... See more keywords