Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature

Clin Dysmorphol. 2023 Apr 1;32(2):88-91. doi: 10.1097/MCD.0000000000000451. Epub 2023 Feb 13.

Affiliations

¹ Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University.
² Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics.
³ Department of Pediatric Genetics, Department of Pediatrics.
⁴ Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

PMID: 36779798
DOI: 10.1097/MCD.0000000000000451

No abstract available

Publication types

Review

MeSH terms

Alopecia / genetics
Cholangitis, Sclerosing* / genetics
Claudin-1 / deficiency
Humans
Ichthyosis* / genetics
Infant, Newborn
Leukocyte Disorders
Mutation

Supplementary concepts

Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis