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Papers of the Week

Papers: 27 Nov 2021 - 3 Dec 2021

Human Studies, Pharmacology/Drug Development


2021 Dec 01

JAMA Dermatol

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.


Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu R, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, Loring E, Craiglow BG, Milstone LM, Lifton RP, Boyden LM, et al.
JAMA Dermatol. 2021 Dec 01.
PMID: 34851365.


Ichthyoses are clinically and genetically heterogeneous disorders characterized by scaly skin. Despite decades of investigation identifying pathogenic variants in more than 50 genes, clear genotype-phenotype associations have been difficult to establish.