[BCL11B相关疾病 墨西哥人口中的病例报告. 案例报告] 案例报告]
Israel Enrique Crisanto-López1, María Patricia Saldaña-Guerrer2, Rosa María Hernández-Camacho3
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
|November 21, 2024
概括
有异形面部,言语迟缓和T细胞异常的智力发育障碍 (IDDSFTA) 与BCL11B变体有关. 这项研究报告了一名墨西哥儿童的新型BCL11B变异,扩大了对这种罕见遗传疾病的理解.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 免疫学 免疫学 免疫学
背景情况:
- 智力发育障碍与异形面部,言语延迟和T细胞异常 (IDDSFTA) 是一种罕见的遗传性疾病.
- BCL11B基因变异与IDDSFTA相关,呈现神经发育,面部和免疫学异常.
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