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Updated: Sep 10, 2025

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Identificación y análisis de empalme de la primera variante intrónica profunda causante del síndrome de Yunis-Varon

Hui Tang1, Qingqing Chen1, Jingjing Xiang1

  • 1Center for Reproduction and Genetics, School of Gusu, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China.

Frontiers in genetics
|August 27, 2025
PubMed
Resumen

El síndrome de Yunis-Varón (YVS) es un trastorno genético raro. Este estudio identifica una nueva variante intrónica profunda en el gen FIG4, expandiendo las causas genéticas conocidas de YVS y mejorando las capacidades de diagnóstico.

Palabras clave:
El gen FIG4Síndrome de Yunis VarónVariante intrónica profundadiagnóstico prenatalsecuenciación del genoma completo

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