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Updated: May 15, 2025

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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Classic Prader-Willi Syndrome Phenotype Caused by an Atypical Deletion in the 15q11 Region Not Involving the SNORD

Jazmín Belén Martínez1, Josefina María Álvarez Arancedo1, Andrea Solari1

  • 1Department of Medical Genetics, National Center for Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health, Buenos Aires, Argentina.

Clinical Genetics
|April 9, 2025
PubMed

Keywords:
MS‐MLPAPrader‐Willi syndromearray CGHatypical deletionsmedical geneticsreview

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