A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report.
A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report.
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DOI：
10.1002/ccr3.1038
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发表时间：
2017-08
影响因子：
0.7
通讯作者：
Stumpel C
中科院分区：
文献类型：
--
作者：
Otter M;Wevers M;Pisters M;Pfundt R;Vos Y;Nievelstein RJ;Stumpel C
临床遗传学家、神经学家、精神病学家和其他医疗保健提供者可以从本病例报告中了解到，行为表型包括轻度学习障碍的患者也可能需要进行彻底的检查，包括脑MRI和全外显子组测序。
Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole‐exome sequencing.