When Two Rare Diagnoses Collide: Hidden Genes Unmasked in Prader-Willi Syndrome
Chinese clinicians report the first case series of three boys with maternal uniparental disomy-type Prader-Willi syndrome who also silently carry ...
Tag: pediatric genetics
Largest Pediatric Neurofibromatosis Study Reveals How Gene Variants Shape Growth and Disease Severity
A 12-year single-center study of 301 children with neurofibromatosis type 1 maps the disorder's genetic and clinical landscape, linking specific ...
Four new genes linked to isolated short stature in children
Idiopathic short stature, the diagnosis given to children who fall far below normal height curves without any identifiable cause, has ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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