Disorders


 

Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis


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

 

OMIM

GeneLocusProtein
CLDN13q28-q29Claudin-1

Laboratory Test Method Prenatal Carrier *
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany• Sequence analysis of the entire coding region

* 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.

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