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Article

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.

Neurogenetics - 1 Jan 2023

Refeat Miral M, Naggar Walaa El, Saied Mostafa M El, Kilany Ayman

Abstract excerpt

Developmental regression describes a child who begins to lose his previously acquired milestones skills after he has reached a certain developmental stage and though affects his childhood development. It is associated with neurodegenerative diseases including leukodystrophy and neuronal ceroid lipofuscinosis diseases (NCLs), one of the most frequent childhood-onset neurodegenerative disorders. The current study...

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Identifiers

PMID: 36435927
DOI: 10.1007/s10048-022-00703-7
PMCID: PMC9823068

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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