Associated Papers
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Neehus AL et al.
Cell, 2024
38157855 (PubMed )
Supplement: NIHMS1949155-supplement-MMC1.pdf
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
31046801 (PubMed )
Supplement: 13023_2019_1076_MOESM2_ESM.docx
Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia.
Sugiura K et al.
Acta Dermato-venereologica, 2015
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
Eckl KM et al.
The Journal of Investigative Dermatology, 2009
Autosomal recessive congenital ichthyosis.
Fischer J
The Journal of Investigative Dermatology, 2009
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