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Article

Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.

Yonsei medical journal - 1 May 2018

Kim Hyo Jeong, Park Chang Il, Lim Jae Woo, Lee Gyung Min, Cho Eunhae, Kim Hyon J

Abstract excerpt

PURPOSE: The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplained developmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We also aimed to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). MATERIALS AND METHODS: We collected clinical and CMA data from patients at...

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Identifiers

PMID: 29611406
DOI: 10.3349/ymj.2018.59.3.431
PMCID: PMC5889996

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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