Characterization of Point Mutations in Patients with X-linked Ichthyosis
Elisabeth S. Alperin, Larry J. Shapiro
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Mosaic STS gene deletions in chorionic villus samples are often confined to the placenta, and they differ in size from STS gene deletions in patients with X-linked Ichthyosis [PDF]
Pernille Marker Rydder +6 more
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Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions [PDF]
Manuela Pigors +12 more
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Netherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images. [PDF]
Nagshabandi KN, Alsalhi A.
europepmc +1 more source
Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications [PDF]
Kunitaka HARUNA +7 more
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An infant of KID syndrome along with Dandy-Walker malformation (DWM). [PDF]
Mondal A.
europepmc +1 more source
Genotype-Environment-Driven Dysbiosis in the Skin Microbiome of Ichthyosis
Wei Zhou +4 more
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ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis. [PDF]
Vinberg C +5 more
europepmc +1 more source

