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Article

Behavioral and neuroanatomical analyses in a genetic mouse model of 2q13 duplication.

Genes to cells : devoted to molecular & cellular mechanisms - 1 May 2017

Kishimoto Keiko, Nomura Jun, Ellegood Jacob, Fukumoto Keita, Lerch Jason P, Moreno-De-Luca Daniel, Bourgeron Thomas, Tamada Kota, Takumi Toru

Abstract excerpt

Duplications of human chromosome 2q13 have been reported in patients with neurodevelopmental disorder including autism spectrum disorder. Nephronophthisis-1 (NPHP1) was identified as a causative gene in the minimal deletion on chromosome 2q13 for familial juvenile type 1 nephronophthisis and Joubert syndrome, an autosomal recessive neurodevelopmental disorder characterized by a cerebellar and brain stem...

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Identifiers

PMID: 28370817
DOI: 10.1111/gtc.12487

Genes

NPHP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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