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http://dx.doi.org/10.1016/j.ad.2018.12.007 | DOI Listing |
Front Dent Med
October 2024
Division of Pediatric Dentistry, Department of Oral Health and Development Sciences, Tohoku University Graduate School of Dentistry, Sendai, Japan.
Congenital ichthyosis is a disease in which the stratum corneum on the surface of the skin becomes thick from the time of the fetus and the barrier function of the skin is impaired. Congenital ichthyosis is a genetic disorder that causes ectodermal abnormalities and sometimes affects skin, nails, and tooth enamel. Therefore, some patients require special care in their daily life and during dental treatments.
View Article and Find Full Text PDFAnn Clin Transl Neurol
February 2025
Department of Neurology, Movement Disorders Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case of a 3-year-old male with a blended phenotype of TECPR2-related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss-of-function founder variant in the TECPR2 gene [NM_014844.5: c.
View Article and Find Full Text PDFAnn Intern Med
January 2025
The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, and School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel (H.B.F.).
J Med Case Rep
December 2024
Department of Pulmonology, Pius-Hospital Carl Von Ossietzky University, Oldenburg, Germany.
Biomed Res Int
September 2024
Department of Dermatology Cleveland Clinic, Cleveland, Ohio, USA.
The potential link between alopecia areata (AA) and eosinophilia is unclear, as well as its clinical manifestations in these patients' subsets. This is a monocentric retrospective observational study in which clinical and laboratory data were summarized and evaluated the AA subset with concurrent eosinophilia. In a sample of 205 AA patients, 38 (18.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!