- ORCID iD
- 0000-0002-0914-2676
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HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects
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Ovotesticular difference of sex development : genetic background, histological features and clinical management
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- Journal Article
- A1
- open access
Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies
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Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review
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Ultrastructural elastic fiber morphology in cutis laxa reflects the underlying pathogenesis and supports a novel clinical classification