Identification of Pathogenic Variants in <i>CYP4F22</i>, <i>FLG</i>, <i>ALOX12B</i>, and <i>NIPAL4</i> in a Case Series of Inherited Ichthyosis. [PDF]
Int J Mol SciSattar MA +6 more
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ST14 syndromic epidermal differentiation disorder: A case report of a homozygous recessive variant with photosensitivity. [PDF]
JAAD Case RepElhofy N +4 more
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Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases. [PDF]
Dermatopathology (Basel)Süßmuth K +10 more
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Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review. [PDF]
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Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation [PDF]
Journal of Dermatological Science, 2020 Background: NIPAL4, encoding the NIPA-like domain containing 4 protein (NIPAL4), is one of the causative genes of autosomal recessive congenital ichthyosis (ARCI).
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