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Publications by Eleonora Druve Tavares Faguntes
Early Onset of Chanarin-Dorfman Syndrome With Severe Liver Involvement in a Patient With a Complex Rearrangement of ABHD5 Promoter
BMC Medical Genetics
Genetics
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A New Patient of Chanarin Dorfman Syndrome in Egypt
Archives of Clinical and Medical Case Reports
A New Patient of Chanarin Dorfman Syndrome in Egypt
Archives of Clinical and Medical Case Reports
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Clinical and Experimental Dermatology
Dermatology
Clinical and Genetic Characterization of a Chanarin Dorfman Syndrome Patient Born to Diseased Parents
BMC Medical Genetics
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Severe Oily Ichthyosis in Monozygotic Twins Mimicking Chanarin-Dorfman Syndrome but Not Associated With a Mutation of the CGI58 Gene
Archives of Dermatology
Early-Onset Thrombocytopenia, Severe Polyarthritis, and Severe Β Cell Impairment in a Down Syndrome Patient
World Allergy Organization Journal
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Pulmonary
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Respiratory Medicine
Fat Embolism Syndrome With Cerebral Involvement in a Multitrauma Patient
Turkiye Klinikleri Journal of Anesthesiology Reanimation
Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome
American Journal of Human Genetics
Genetics
Severe Diphtheria With Neurologic and Myocardial Involvement in a Swedish Patient: A Case Report
BMC Infectious Diseases
Infectious Diseases
