Polygenic Traits
Nature and Nurture
Heritability
Genetic Variation
Human Genetics
Sex-linked Disorders
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Updated: Jan 7, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Margot Comel1, Mouna Barat-Houari2, Fanny Alkar1
1Montpellier University, ERN ITHACA, Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre Hospitalier Universitaire de Montpellier, Centre de Référence Constitutif des Maladies Osseuses Constitutionnelles, 34295 Montpellier, France.
Familial short stature can stem from multiple genetic causes, not just one. This study found three distinct gene variants (SHOX, PDE4D, ACAN) in one family, impacting diagnosis and treatment strategies.
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