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Article

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

Human genetics - 1 May 2007

Kalscheuer Vera M, FitzPatrick David, Tommerup Niels, Bugge Merete, Niebuhr Erik, Neumann Luitgard M, Tzschach Andreas, Shoichet Sarah A, Menzel Corinna, Erdogan Fikret, Arkesteijn Ger, Ropers Hans-Hilger, Ullmann Reinhard

Abstract excerpt

We report on three unrelated mentally disabled patients, each carrying a de novo balanced translocation that truncates the autism susceptibility candidate 2 (AUTS2) gene at 7q11.2. One of our patients shows relatively mild mental retardation; the other two display more profound disorders. One patient is also physically disabled, exhibiting urogenital and limb malformations in addition to severe mental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 7

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Source

Identifiers

PMID: 17211639
DOI: 10.1007/s00439-006-0284-0

Genes

AUTS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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