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5 p, 437.3 KB Unusual context of CENPJ variants and primary microcephaly : compound heterozygosity and nonconsanguinity in an Argentinian patient / Cueto-González, Anna Mª (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández-Alvarez, Paula (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Garcia-Arumi, Elena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Tizzano, Eduardo F. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
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 sex-matched populations. [...]
2020 - 10.1038/s41439-020-0105-3
Human Genome Variation, Vol. 7 (june 2020)  
Detailed record - Creative Commons

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