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Article

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

American journal of human genetics - 1 Jun 2017

Heinz Lisa, Kim Gwang-Jin, Marrakchi Slaheddine, Christiansen Julie, Turki Hamida, Rauschendorf Marc-Alexander, Lathrop Mark, Hausser Ingrid, Zimmer Andreas D, Fischer Judith

Abstract excerpt

Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for ARCI have been discovered to date. Using whole-exome sequencing (WES) and multigene panel screening, we identified 6...

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Identifiers

PMID: 28575648
DOI: 10.1016/j.ajhg.2017.05.007
PMCID: PMC5473727

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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