Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
Article in Molecular Genetics & Genomic Medicine (April 2024)
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Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia
Article in Journal of Clinical Immunology (March 2024)
Inborn errors of immunity present with neuropsychiatric symptoms overlapping with autistic behavioral symptoms
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