Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome

OGM demonstrates advantages over other techniques for identifying structural variants. This observation highlights how advancements in cytogenomics enhance the resolution with which cases previously inaccessible through conventional cytogenetics can now be investigated.

Institutions

Publication Details

Journal
Molecular Syndromology
Published
2025-12-19
DOI
https://doi.org/10.1159/000550167
Citations
1
Primary Topic
Genetic and rare skin diseases.
Type
article
Field-Weighted Citation Impact
1.82
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article

Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome

1 citations
Molecular Syndromology
Genetic and rare skin diseases.
1.82
article

Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome

article en
1 citations

Abstract

OGM demonstrates advantages over other techniques for identifying structural variants. This observation highlights how advancements in cytogenomics enhance the resolution with which cases previously inaccessible through conventional cytogenetics can now be investigated.

Molecular Syndromology
Pontificia Universidad Javeriana (CO), Hospital Infantil Universitario Niño Jesús (ES)
Openalex Percentile: Top 10%
Genetic and rare skin diseases.
1.82
DOIOpen Access PDFOpenAlex
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Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome · Molecular Syndromology (2025) | TGRS Research Map | TGRS