Andrea Diociaiuti
0000-0003-0879-9825
9 papers found
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Tufted hair at birth: A previously undescribed peculiar sign of trichothiodystrophy
The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature
Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review
Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub‐classification of inherited epidermolysis bullosa: a single‐centre retrospective comparative study of 87 cases with long‐term follow‐up
Are SARS‐CoV‐2 IgA antibodies in paediatric patients with chilblain‐like lesions indicative of COVID‐19 asymptomatic or paucisymptomatic infection?
A clinical, histopathological and laboratory study of 19 consecutive Italian paediatric patients with chilblain‐like lesions: lights and shadows on the relationship with COVID‐19 infection
Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review
Glanular Venous Malformation in Pediatric Age: An Uncommon Vascular Disorder
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