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Article

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.

European journal of medical genetics - 1 Sept 2014

Fannemel Madeleine, Barøy Tuva, Holmgren Asbjørn, Rødningen Olaug K, Haugsand Trine M, Hansen Børre, Frengen Eirik, Misceo Doriana

Abstract excerpt

2p15p16.1-deletion syndrome was first described in 2007 based on the clinical presentation of two patients. The syndrome is characterized by intellectual disability, autism spectrum disorders, microcephaly, dysmorphic facial features and a variety of congenital organ defects. The precise genotype-phenotype correlation in 2p15-deletion syndrome is not understood. However, greater insight can be obtained by...

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Source

Identifiers

PMID: 24911659
DOI: 10.1016/j.ejmg.2014.05.008

Genes

USP34
XPO1

Provenance

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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