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Carlsson G et al. - The authors describe a patient with a compound heterozygous HAX1 mutation consisting of a nonsense mutation and a frame-shift mutation resulting in a premature stop codon. The patient has a history of neutropenia and a propensity for infections, but has shown no signs of neurodevelopmental abnormalities.

Today in Basic Science/Genetics...keeping you current

Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI
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The development and piloting of the ISPCAN Child Abuse Screening Tool-Parent version (ICAST-P)
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Today in Pathology...keeping you current

Application with repeated serum biomarkers in pediatric appendicitis in clinical surgery
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Staphylococcus Aureus Bacteremia in Pediatric Patients With Cancer
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Facial rhabdomyosarcoma with an isolated pancreatic metastasis
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