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Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like

MedGen UID:
375019
•Concept ID:
C1842797
•
Disease or Syndrome
Synonym: Exfoliative Ichthyosis, Autosomal Recessive, IBS-Like

Recent clinical studies

Diagnosis

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.
Moosbrugger-Martinz V, Jalili A, Schossig AS, Jahn-Bassler K, Zschocke J, Schmuth M, Stingl G, Eckl KM, Hennies HC, Gruber R
Br J Dermatol 2015 Jun;172(6):1628-1632. Epub 2015 Mar 18 doi: 10.1111/bjd.13545. PMID: 25400170

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