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Publications by Sara Missaglia

Early Onset of Chanarin-Dorfman Syndrome With Severe Liver Involvement in a Patient With a Complex Rearrangement of ABHD5 Promoter

BMC Medical Genetics

English

Clinical and Genetic Characterization of a Chanarin Dorfman Syndrome Patient Born to Diseased Parents

BMC Medical Genetics

English

Related publications

A New Patient of Chanarin Dorfman Syndrome in Egypt

Archives of Clinical and Medical Case Reports

English

A New Patient of Chanarin Dorfman Syndrome in Egypt

Archives of Clinical and Medical Case Reports

English

Chanarin-Dorfman Syndrome

Clinical and Experimental Dermatology

English

Severe Oily Ichthyosis in Monozygotic Twins Mimicking Chanarin-Dorfman Syndrome but Not Associated With a Mutation of the CGI58 Gene

Archives of Dermatology

English

Early-Onset Thrombocytopenia, Severe Polyarthritis, and Severe Β Cell Impairment in a Down Syndrome Patient

World Allergy Organization Journal

Respiratory Medicine

English

Fat Embolism Syndrome With Cerebral Involvement in a Multitrauma Patient

Turkiye Klinikleri Journal of Anesthesiology Reanimation

English

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

English

Severe Diphtheria With Neurologic and Myocardial Involvement in a Swedish Patient: A Case Report

BMC Infectious Diseases

Infectious Diseases

English