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Updated: Jun 17, 2025

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[20q11.2微删除综合征:一种表型的光谱扩展. 案例报告] 案例报告]

Israel Enrique Crisanto-López1, Renato García-González2, María Patricia Saldaña-Guerrero2

  • 1Instituto Mexicano del Seguro Social, Hospital General de Zona No. 20, Servicio de Genética Médica. Puebla, Puebla, México.

Revista medica del Instituto Mexicano del Seguro Social
|August 8, 2024
PubMed
概括

20q11.2微删除综合征是一种罕见的遗传疾病,影响GDF5,SAMHD1和EPB41L1基因. 本案例报告扩大了已知的表型谱,强调了受影响个体的跨学科管理的重要性.

关键词:
20q11 删除综合征 删除综合征染色体20的第20个染色体染色体删除 染色体删除头骨面部异常 头骨面部异常EPB41L1 EPB41L1 EPB41L1 EPB41L1 EPB41L1 EPB41

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