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Article

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.

Gene - 5 Oct 2018

Vineeth Venugopal S, Dutta Usha R, Tallapaka Karthik, Das Bhowmik Aneek, Dalal Ashwin

Abstract excerpt

Rett syndrome is a neurodevelopmental disorder affecting the nervous, musculoskeletal and gastroenteric systems. Affected individuals show normal neonatal development for 6-18 months followed by sudden growth arrest, psychomotor retardation and a broad spectrum of clinical features. Sequence variants in MECP2 gene have been identified as the major genetic etiology accounting for 90-95% of patients. Apart from...

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Source

Identifiers

PMID: 29920362
DOI: 10.1016/j.gene.2018.06.045

Genes

FOXG1
MECP2
NOVA1
PRKD1

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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