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Updated: Aug 9, 2026

Chicken Recombinant Limbs Assay to Understand Morphogenesis, Patterning, and Early Steps in Cell Differentiation
Published on: January 12, 2022
[Genetics and orthopedics: genetic implications of congenital limb abnormalities]
M Holder-Espinasse1, B Herbaux, A Mezel
1Service de Génétique Clinique Guy-Fontaine, Hôpital Jeanne-de-Flandre, avenue Eugène-Avinée, CHRU de Lille, 59037 Lille Cedex.
Abstract:
Limb malformations are frequent. These malformations are isolated or associated with anomalies of other developmental fields and accurate diagnostic is essential for prognosis evaluation, treatment and genetic counseling. Animal embryology and molecular biology techniques, have given us a better understanding of the processes of growth and patterning of the limb buds. The key genes that are involved in these processes have been identified and their interactions recognized. Human genetics has been able to identify, or at least localize, several genes implicated in limb development. We here review the present knowledge on these genes and their mutations responsible for limb anomalies.
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