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Updated: May 6, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

Malak Alghamdi1,2, Ghaida Alghamdi3, Khalid Hundallah4

  • 1Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

American Journal of Medical Genetics. Part A
|May 21, 2025
PubMed
Abstract

Keywords:
CNP gene2′,3′‐cyclic nucleotide 3′‐phosphodiesteraseHypomyelinating leukodystrophy type 20microcephalyneurodegenerative disorder

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