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Article

A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene.

American journal of medical genetics. Part A - 1 Apr 2011

Avela Kristiina, Aktan-Collan Katja, Horelli-Kuitunen Nina, Knuutila Sakari, Somer Mirja

Abstract excerpt

Recently, three children with a microduplication in 17p13 including the PAFAH1B1 gene that encodes LIS1 were reported. LIS1 overexpression has earlier been shown to affect brain development by causing migrational defects and reductions in brain volume [Bi et al., 2009]. Here, we report an additional patient with a microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 gene, that was inserted into the...

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Identifiers

PMID: 21595003
DOI: 10.1002/ajmg.a.33944

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

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