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Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report.
A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
Floppy Eyelid Syndrome: an Overlooked Comorbidity Among Bariatric Patients.
Association between obstructive sleep apnea and floppy eyelid syndrome: A systematic review and metaanalysis.
Congenital eyelid imbrication syndrome in a Hispanic newborn: case report and review of the literature.