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A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.
Clinical Dysmorphology ( IF 0.4 ) Pub Date : 2019-02-15 , DOI: 10.1097/mcd.0000000000000259
Florence Riccardi 1, 2 , Jill Urquhart 2, 3 , Gary McCullagh 4 , Peter Lawrence 5 , Sofia Douzgou 2, 3
Affiliation  



中文翻译:

具有新的CNTNAP2纯合子变体的患者:CASPR2缺乏综合征的进一步描述和文献复习。

更新日期:2019-11-01
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