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The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported ERF variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, ERF gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay.

Research

Gastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers

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AusVaxSafety surveillance demonstrated comparable and expected safety outcomes for the 2017 quadrivalent inactivated influenza vaccine brands used in Australia

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Early life innate immune dysfunction may represent a key immunological driver and predictor of persistent food allergy in childhood

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Our findings present a novel mouse model for glioma demonstrating that the PI3K pathway is important for initiation of tumorigenesis

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Our findings suggest that prenatal exposure to inflammation may alter the risk of sepsis in preterm infants partly by modulation of monocyte responses to pathogens

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Urinary albumin-to-creatinine ratios at the higher end of the normal range at the age of 10-16 years is associated with an increased risk of progression to microalbuminuria

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Hypoglycemia is the commonest acute complication of type 1 diabetes

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Lung airflow measurements track from birth into early adulthood, suggesting a permanent and stable airway framework is laid down in the antenatal period

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This issues brief outlines opportunities for change to support reduction of harms related to alcohol use in pregnancy