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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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Mediterranean PAH Stratification in Phenylketonuria: Tracing Historical Maps to Point Toward Clinical Phenotype and

Albina Tummolo1, Ornella Tabaku1, Eleonora Meneleo1

  • 1Department of Inherited Metabolic Disorders and Clinical Genetics, Children Hospital Giovanni XXIII, Azienda Ospedaliero-Universitaria Consorziale, 70126 Bari, Italy.

Genes
|August 27, 2026
PubMed
Abstract

Keywords:
BH4 responsivenessBody Mass Index (BMI)Mediterranean geneticsPAH genePegvaliaseSouthern Italygenotype-phenotype correlationgeographical clusteringhistorical migrationshyperphenylalaninemia (HPA)metabolic riskphenylketonuria (PKU)population geneticsprecision medicine

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