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Article

An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.

European journal of human genetics : EJHG - 1 Dec 2018

Chen Heidi I, Jagadeesh Karthik A, Birgmeier Johannes, Wenger Aaron M, Guturu Harendra, Schelley Susan, Bernstein Jonathan A, Bejerano Gill

Abstract excerpt

Approximately 2% of the human genome accounts for protein-coding genes, yet most known Mendelian disease-causing variants lie in exons or splice sites. Individuals who symptomatically present with monogenic disorders but do not possess function-altering variants in the protein-coding regions of causative genes may harbor variants in the surrounding gene regulatory domains. We present such a case: a male of...

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Identifiers

PMID: 30087448
DOI: 10.1038/s41431-018-0221-4
PMCID: PMC6244090

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.PMID 30087448Read ↗

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