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Article

Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype.

European journal of human genetics : EJHG - 1 Sept 2015

Williamson Sarah L, Ellaway Carolyn J, Peters Greg B, Pelka Gregory J, Tam Patrick P L, Christodoulou John

Abstract excerpt

Rett syndrome (RTT), a neurodevelopmental disorder that predominantly affects females, is primarily caused by variants in MECP2. Variants in other genes such as CDKL5 and FOXG1 are usually associated with individuals who manifest distinct phenotypes that may overlap with RTT. Individuals with phenotypes suggestive of RTT are typically screened for variants in MECP2 and then subsequently the other genes dependent...

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Source

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Identifiers

PMID: 25424712
DOI: 10.1038/ejhg.2014.249
PMCID: PMC4538211

Genes

PTPN4
MECP2
CDKL5
FOXG1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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