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. 2020 Nov 1;34(21-22):1520–1533. doi: 10.1101/gad.340190.120

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© 2020 Parry et al.; Published by Cold Spring Harbor Laboratory Press

This article, published in Genes & Development, is available under a Creative Commons License (Attribution 4.0 International), as described at http://creativecommons.org/licenses/by/4.0/.

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Figure 1. — Individuals with biallelic PRIM1 variants have primordial dwarfism. (A) Family pedigrees with segregation of PRIM1 variants as indicated. (Square) male; (circle) female; (filled symbols) individuals with primordial dwarfism, (strike through) deceased. (B) Schematic of PRIM1 transcript and protein. (Vertical black lines) exons. Locations of variants are indicated by red lines. (Green) Primase domain (NCBI CDD cd04860), (yellow) nucleotide-binding residues. (C) Growth parameters of individuals with PRIM1 deficiency. Z scores (standard deviations from population mean for age and sex). Dashed lines indicate 95% confidence interval for general population. (Circles) individual subject data points, (red bars) mean values. (D) MRI neuroimaging of P3 demonstrates microcephaly with simplified gyri. Axial T2; Sagittal T1. Comparison with age-matched healthy controls. Scale bar, 5 cm. (E) Photographs of individuals P2–P5. (P2) 8 mo, (P3) 7 mo, (P4) newborn, (P5) 7 mo. Written consent was obtained from families for photography.