Identification of Compound Heterozygous Mutations in AP1B1 Leading to the Newly Described Recessive Keratitis–Ichthyosis–Deafness (KIDAR) Syndrome
January 2021
in “
British Journal of Dermatology
”
Studysummary This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.
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