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Secuenciación del genoma completo identifica variantes de HOXD13 en pedigríes de sindactilia

Yi-Feng Xu1, Jing Zhang2, Tian-Ying Wei1

  • 1Beijing Jiaen Hospital, Heen Life Medical Research Institute, Beijing, China.

Human genomics
|December 25, 2025
PubMed
Resumen

La secuenciación del genoma completo (WGS) identificó nuevas variantes de HOXD13, incluidas expansiones de polialanina, en casos de sindactilia pasados por alto por métodos estándar. Esto mejora el diagnóstico genético de malformaciones de las extremidades.

Palabras clave:
HOXD13Expansión de polialaninaSindactiliaSecuenciación del genoma completo

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