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Article

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

European journal of human genetics : EJHG - 1 Jun 2015

Beunders Gea, de Munnik Sonja A, Van der Aa Nathalie, Ceulemans Berten, Voorhoeve Els, Groffen Alexander J, Nillesen Willy M, Meijers-Heijboer Elizabeth J, Frank Kooy R, Yntema Helger G, Sistermans Erik A

Abstract excerpt

AUTS2 syndrome is characterized by low birth weight, feeding difficulties, intellectual disability, microcephaly and mild dysmorphic features. All affected individuals thus far were caused by chromosomal rearrangements, variants at the base pair level disrupting AUTS2 have not yet been described....

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Source

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Identifiers

PMID: 25205402
DOI: 10.1038/ejhg.2014.173
PMCID: PMC4795056

Genes

AUTS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25205402-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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