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Article

Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.

Pediatric neurology - 1 Dec 2023

Shin Sunghwan, Lee Jiwon, Kim Young-Gon, Ha Changhee, Park Jong-Ho, Kim Jong-Won, Lee Jeehun, Jang Ja-Hyun

Abstract excerpt

BACKGROUND: Neurodevelopmental disorders (NDDs) have diverse phenotypes. Their genetic diagnoses are often challenged by difficulties of targeting causative genes due to heterogeneous genetic etiologies. The objective of this study was to perform genetic diagnosis of children with NDDs using whole genome sequencing. METHODS: This study included 78 pediatric patients with NDDs and their 152 family members for...

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Identifiers

PMID: 37776660
DOI: 10.1016/j.pediatrneurol.2023.09.003

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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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