Disorders

Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis

Synonym(s): ILVASC, Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome, Nisch Syndrome

Gene	Locus	Protein
CLDN1	3q28-q29	Claudin-1

Laboratory	Test Method	Prenatal	Carrier *
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.