与MAST1相关的超大体体综合征与中心性阴性双胞胎症
Natacha Sloboda1, Emeline Renard2, Laetitia Lambert3
1Service de Génétique Clinique, Centre Hospitalier Régional Universitaire, Nancy, F-54000, France; Centre de Référence des Epilepsies Rares (CRéER) Centre Hospitalier Régional Universitaire, Nancy, F-54000, France.
微管相关的氨酸/氨酸激酶1 (MAST1) 基因突变与大脑发育障碍有关. 这项研究详细介绍了成年男性罕见的MAST1突变,揭示了中枢性双胞胎缺陷症作为潜在的新症状.
科学领域:
- 神经遗传学 神经遗传学
- 发展生物学 发展生物学
- 内分泌学 在内分泌学.
背景情况:
- 在MAST1基因的异构变异已经与大体合体综合征与小脑低成形和皮质形 (MCCCHCM) 相关.
- 以前报告的患有MAST1突变的患者主要是年幼的儿童,他们表现出中枢神经系统异常,运动缺陷,言语延迟和脑MRI发现.
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