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Article

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.

Clinical genetics - 1 Feb 2019

Schönewolf-Greulich B, Bisgaard A-M, Møller R S, Dunø M, Brøndum-Nielsen K, Kaur S, Van Bergen N J, Lunke S, Eggers S, Jespersgaard C, Christodoulou J, Tümer Z

Abstract excerpt

The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing-based techniques and many patients have been diagnosed with other syndromes or variants in newly described genes where the associated phenotype(s) is yet to be fully explored. The term Rett-like refers to phenotypes with distinct overlapping features of Rett syndrome where the clinical criteria are not...

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Source

Identifiers

PMID: 29023665
DOI: 10.1111/cge.13153

Genes

KCNB1
SMC1A
STXBP1

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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