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Article

iPS cells to model CDKL5-related disorders.

European journal of human genetics : EJHG - 1 Dec 2011

Amenduni Mariangela, De Filippis Roberta, Cheung Aaron Y L, Disciglio Vittoria, Epistolato Maria Carmela, Ariani Francesca, Mari Francesca, Mencarelli Maria Antonietta, Hayek Youssef, Renieri Alessandra, Ellis James, Meloni Ilaria

Abstract excerpt

Rett syndrome (RTT) is a progressive neurologic disorder representing one of the most common causes of mental retardation in females. To date mutations in three genes have been associated with this condition. Classic RTT is caused by mutations in the MECP2 gene, whereas variants can be due to mut...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21750574
DOI: 10.1038/ejhg.2011.131
PMCID: PMC3218106

Genes

CDKL5
MECP2
FOXG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21750574-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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